Cover and Comments 23-2

BARROW

QUARTERLY VOLUME 23 ◊ NUMBER 2 ◊ 2007

BARROW NEUROLOGICAL INSTITUTE OF ST. JOSEPH’S HOSPITAL AND MEDICAL CENTER • PHOENIX, ARIZONA

COMMENTS

No single discipline has the expertise to fully treat children with a craniofacial anomaly. Consequently, such children require care from many different disciplines. Typically, surgical, medical, dental, and psychosocial specialists are involved. When a large number of professionals are involved in the multifaceted care of patients, healthcare teams develop. Cleft and craniofacial teams, which were formed in response to the complex, life-long, ongoing clinical and psychosocial needs of this patient population, are widely considered an effective means to avoid fragmentation and dehumanization in the delivery of such highly specialized health care. Team care represents an improvement over splintered, community-based, multispecialty care. The benefits of healthcare delivery by the team approach include the abilities to provide interdisciplinary services, to address the emotional and psychological needs of patients and their family, and to perform multifaceted examinations that enable comprehensive treatment plans to be formed based on the team’s recommendations and the family’s preferences. Since 1986 the Barrow Craniofacial Center (formerly the Southwest Craniofacial Center) has been treating children and adults with cleft and craniofacial disorders from Arizona and the Southwest through this essential interdisciplinary team approach. The team helps address parental concerns about the choice and timing of treatment and the coordination of ongoing care. In addition to providing these clinical craniofacial services, the team conducts clinical research and provides education for students of these disciplines. This issue of the Barrow Quarterly reviews established principles of craniofacial care and presents new findings on the genetics of craniofacial deformities, new practices in orthodontic cleft care, and new techniques of distraction osteogenesis. The breadth of the material underscores the broad base of interdisciplinary knowledge and care required to care for patients with these complex deformities—care best provided at centers of excellence such as the Barrow Neurological Institute. We are proud to showcase the efforts of this dedicated team working with these most complicated cases. Please consider using the enclosed self-addressed stamped envelope to make a tax-deductible donation that will help us continue to share the exciting work performed at our institution. Thank you.

Stephen P. Beals, MD Guest Editor

This issue’s cover depicts the key steps to successful craniofacial surgery as they relate to a child with Crouzon syndrome. As a part of the planning process, the doctor traces the projected position of the mobilized bone. A Le Fort III osteotomy is performed to free the bone fragment that will undergo distraction osteogenesis. Once distraction is complete, the rigid fixation device is left to hold the face forward until it heals, obviating the need for bone grafts, plates and screws. See the article by Beals et al. on page 11. The illustration is by Kristen Larson. ARTICLES

Craniosynostosis Syndromes in the Genomic Era† raniosynostosis is the premature clo- Kirk Aleck, MD Csure of a cranial suture or sutures, leading to alterations in head shape. It is The origin of craniosynostosis is heterogeneous: hereditary, mechanical, ter- a frequently encountered physical find- atogenic, and idiopathic. Craniosynostosis is further defined by the suture(s) in- ing in children, affecting about 1 in volved and whether it is syndromic or nonsyndromic. Syndromic craniosynostosis 2500.11 Etiologically and morphologi- typically involves cranial sutures plus changes in the central nervous system and cally, craniosynostosis is heterogeneous, extracranial skeleton. Nonsyndromic craniosynostosis is usually confined to cra- often necessitating careful clinical and ra- nial changes. The most common syndromic synostoses reflect changes in FGFR diological evaluation to determine its activity related to mutations in the genes coding for these receptors. Other genes cause. Neurological complications can have been implicated in other craniosynostosis syndromes. Several craniosyn- include increased intracranial pressure ostosis syndromes are caused by mutation of the same FGFR making the with decreased cerebral blood flow, ab- eponymic designation (e.g., Crouzon or Pfeiffer syndrome) less certain. Ulti- normalities of hearing and vision, and in- mately, syndrome eponyms may be replaced by designation of the underlying mu- tellectual impairment. This review ex- tation. Neurological complications can include mental retardation, increased in- plores the classification, biology, and tracranial pressure, and cranial nerve abnormalities. Craniosynostosis syndromes diagnosis of craniosynostosis. require careful physical examination, radiological investigation, and now molecular evaluation to predict outcomes and the risks of recurrence. Key Words: cranial suture, craniosynostosis, fibroblast growth factor re- Origins of Craniosynostosis ceptor There are five major causes of craniosynostosis. The first is premature fusion for unknown developmental reasons. The second is mechanical compaction (external pressure) and fusion of the suture. The third is premature fusion related to metabolic disorders or teratogenic agents. Fourth, the suture may close pre- maturely because of a lack of underlying brain growth that ordinarily causes the suture to remain separated. Finally, premature fusion may occur as the result of a genetic mutation. Craniosynostosis is most often an isolated developmental abnormality with no known underlying mechanism. Cranio- synostosis has also been reported in more than 100 different genetic syndromes7 in Abbreviations Used: FGFR, fibroblast growth factor receptor; IQ, intelli- which the causative gene may or may not gence quotient be known. Craniosynostosis is reported in a number of chromosomal disorders as Children’s Healthcare Center, St. Joseph’s Hospital and Medical Center, Phoenix, Arizona well.5 Metabolic disorders include hy- †Text from Aleck K: Craniosynostosis syndromes in the genomic era. Semin Pediatr Neurol perthyroidism, rickets, hypercalcemia, and 11(4):256-261, 2004. Reprinted with permission from Elsevier. mucopolysaccharidoses; several hemato-

4 BARROW QUARTERLY • Vol. 23, No. 2 • 2007 Aleck: Craniosynostosis Syndromes in the Genomic Era logical disorders account for a small per- 5 Sagittal Metopic centage of craniosynostosis cases. Sev- suture suture eral teratogens have also been implicated as causes of craniosynostosis.5 Frontal Parietal bone bone Biology of Craniosynostosis The cranial sutures are an example of Coronal the type of bony articulation known as a suture synarthrosis. In this type of articulation, bones almost contact one another but are separated by fibrous tissue and are relatively immovable. Sutures occur only in the cranium and in no other part of the body. Sutures are the sites of constant de- Occipital position and resorption, which allow the bone rapid changes in size and shape that accompany head and face growth. If a facial Lambdoid Squamosal suture fails to develop or closes prema- suture suture turely, compensatory changes in the sur- Figure 1. The bones and sutures of the cranium. rounding bones occur. The cranial bones originate as a series of ossification centers located in specific areas within the fibrous desmocranium Table 1. Classification of Craniosynostosis that surrounds the fetal brain.5 During this period of rapid growth, the ossifica- Primary craniosynostosis tion develops and the underlying brain grows equally rapidly. When growth of Primary syndromic synostosis with known mutations the brain slows, these ossification centers Primary syndromic synostosis without known mutations form sutures at their margins. Eventual- Nonsyndromic synostosis ly the sutures themselves are obliterated Secondary craniosynostosis as the bones of the calvarium fuse. Ap- Mechanical etiology propriate timing of this fusion results in Metabolic etiology the normal skull shape. With the excep- Early sutural closure due to failure of brain growth tion of the metopic suture, which fuses between 2 and 3 years of age,21 sutural closure is an adult phenomenon. The major sutures fuse in the third decade. Premature fusion occurs when a suture is head shape referred to as dolichocephaly of a syndrome or on an isolated basis, is obliterated by bone before it can adapt to or scaphocephaly. Lambdoidal synosto- caused by an error in development. Pri- the rapid growth. sis also results in brachycephaly, but the mary craniosynostosis can be divided into major effect is on the posterior skull. syndromic craniosynostosis with known Metopic synostosis creates a ridge on the genetic mutations, syndromic synostosis Classification center of the forehead that extends from without known genetic mutations, and A morphological classification of cra- the anterior fontanel to the forehead. It nonsyndromic craniosynostosis. Sec- niosynostosis refers to the suture or su- often results in a triangular-shaped head ondary synostosis is due to mechanical or tures that exhibit premature closure (Fig. (trigonocephaly). Synostosis involving metabolic causes that alter a previously 1). Bilateral coronal synostosis is most multiple sutures leads to tower skull (acro- normal cranial developmental pattern. often associated with syndromic synosto- cephaly). Finally, multiple sutural synos- Secondary synostosis also is associated sis and results in a short from front to back tosis with bulging through squamosal or with early sutural closure related to failure (brachy) and tall (turri)-shaped head re- sagittal sutures leads to a trilobed clover- of the brain to grow. ferred to as brachyturricephaly. Unilateral leaf skull (Kleeblattschädel). In the primary syndromes of cranio- coronal synostosis results in an asymmet- Craniosynostosis can be divided into synostosis, the shape of the skull can be ric head shape referred to as plagioceph- primary and secondary synostosis (Table predicted by two general rules: The head aly. Sagittal synostosis results in a long, thin 1). Primary synostosis, whether as part will be shorter perpendicular to the closed

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Plagiocephaly syndrome such as Saethre-Chotzen as de- (unilateral coronal) scribed later. Metopic synostosis is characterized Trigonocephaly by a bony prominence in the midline, (metopic) extending from the anterior fontanel to the forehead. It accounts for about 15% of cases of isolated craniosynostosis and is most common in males. It is often accompanied by trigonocephaly and up- slanting palpebral fissures. Metopic synostosis is part of several well-described chromosomal syndromes, particularly 9p- and some examples of Opitz C syndrome.9 Isolated lambdoidal synostosis, whether bilateral or unilateral, is relatively rare and results in marked flattening of the occiput. Oxycephaly, also rare, is associated with multiple sutural clo- sures. It often results in a tall, pointed (tower) skull with the brain growing in the direction of least resistance. Acro- cephaly has an ominous prognosis. Fi- Normocephaly nally, Kleeblattschädel (cloverleaf skull) is an isolated abnormality or part of well- Dolichocephaly described syndromes such as Pfeiffer II Brachycephaly (sagittal) (coronal) syndrome or thanatophoric dysplasia. Cloverleaf skull is also associated with an ominous prognosis.

Primary Craniosynostosis with Known Mutations. Most of the common genetic causes of craniosynostosis have been traced to mutations. The most common Plagiocephaly craniosynostosis syndromes involve mu- (unilateral lambdoidal) tations in the FGFR system (Fig. 3).18 Mutations in other gene families have also Figure 2. Morphologic effect of cranial suture synostoses. been found. Unfortunately, like most genetic disorders, several mutations of the same gene are associated with a particu- suture (growth restriction occurs at right with excellent results. Dolichocephaly lar syndrome. For example, more than angles to the fused suture) and longer par- without premature sutural closure often 15 mutations of the FGFR2 gene are as- allel to the closed suture (compensatory occurs in premature infants. Its origin is sociated with Crouzon syndrome.15 Thus expansion in the same direction of the deformational caused by lying on the sides genetic testing for Crouzon syndrome fused suture, Fig. 2). of the head for prolonged periods. must involve sequencing the entire gene for malformations rather than looking for Nonsyndromic Isolated Primary Isolated Coronal Synostosis. Early fusion of a single mutation causing all examples of Craniosynostosis the coronal suture, whether unilateral or Crouzon syndrome. Isolated Sagittal Synostosis. Isolated early bilateral, is the second most common Moreover, mutations in different genes fusion of the sagittal suture is the most form of craniosynostosis, occurring in occasionally cause the same phenotypic common form, estimated at about 56% of about 22% of isolated cases.9 As noted, it syndrome. For example, Pfeiffer syn- all cases of isolated craniosynostosis.9 It results in brachyturricephaly. If unilater- drome has been associated with muta- results in scaphocephaly. It has a marked al, it causes plagiocephaly and facial asym- tions in FGFR1 and FGFR2.20 Thus a predilection for males. Its cause is un- metry. If unilateral, coronal synostosis oc- specific diagnosis of Pfeiffer syndrome that known and it usually has no neurological curs, and patient and family must be might be useful in prenatal diagnosis sequelae. Treatment is surgical, usually examined carefully for systemic signs of a would require screening both FGFR1

6 BARROW QUARTERLY • Vol. 23, No. 2 • 2007 Aleck: Craniosynostosis Syndromes in the Genomic Era and FGFR2. An additional confusion, the suture most commonly involved, all drome. This disorder is genetically dis- almost unique to the craniosynostosis syn- sutures in various combinations have been tinct from Crouzon syndrome and in- dromes, is that the same specific mutation involved. Ocular proptosis (exorbitism), volves the specific mutation A391E (ala- can cause different craniosynostosis syn- which occurs in all cases, is the hallmark nine mutated to glutamate at the 391st dromes. For instance, the identical mu- of the disorder.9 Findings are usually con- amino acid of FGFR3.16 tation has been associated with Crouzon fined to the head and neck although oc- Pfeiffer syndrome tends to be a more syndrome in some families and with Pfeif- casional findings involve the extremities. severe disorder and has been divided into fer syndrome in others.19 This feature is Neurological findings include visual al- three subtypes. It is associated with muta- still unexplained but presumably is due to terations (decreased visual acuity, strabis- tions in FGFR1 and FGFR2.6 In all other genes altering the expression of a mus, and optic nerve hypoplasia) and three types of Pfeiffer syndrome, brachy- specific gene. acoustic abnormalities (conductive hear- turricephaly is accompanied by abnor- ing loss). Seizures occur in 12% of cases malities of hands and feet. The hands fea- FGFR Mutations and headache in 29%; hydrocephalus and ture broad, medially deviated thumbs and Mutations of three FGFRs account jugular foramen stenosis with venous ob- variable brachydactyly (short fingers) for most causes of syndromic craniosyn- struction also occur.9 Intelligence is usu- while the feet exhibit broad, medially de- ostosis.18 These include Crouzon, ally normal. Mutations in the FGFR2 viated great toes and variable toe brachy- Crouzon with acanthosis nigricans, Pfeif- gene are believed responsible for all cases dactyly. The broad, medially deviated fer, Apert, Muenke, Beare-Stevenson, of Crouzon syndrome, but to date only thumbs and great toes are the hallmarks of and Jackson-Weiss syndromes. Crouzon 50% of patients have known mutations.18 this disorder. Individuals with Type I syndrome is an autosomal dominant dis- Crouzon syndrome with acanthosis ni- Pfeiffer syndrome usually have normal in- order characterized by variable, but usu- gricans is a separate disorder that features telligence, moderate to severe midfacial ally symmetric, synostosis of the cranial both conditions. It is sometimes referred flattening, exorbitism, typical hands and sutures. Although the coronal suture is to as the Crouzon dermoskeletal syn- feet, and often hearing loss and hydro-

FGFR1

FGFR2

FGFR3

Pfeiffer syndrome Muenke syndrome Pfeiffer and/or Crouzon syndrome

Crouzon syndrome Achondroplasia Crouzon and/or Jackson-Weiss syndrome Apert syndrome Crouzon with acanthosis nigricans Crouzon and/or Jackson-Weiss Beare-Stevenson syndrome and/or Pfeiffer syndrome

Figure 3. Schematic diagram showing the FGFRs and known sites of mutations in specific disorders.

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cephalus. About 5% of patients with acanthosis nigricans.3 All exhibit mental by fetal positioning or by extrinsic com- Type I have mutations in FGFR1 and retardation. Many exhibit unusual so- pressive forces such as uterine anatomy or 95% have mutations in FGFR2.18 Type matic features, including pyloric stenosis, a twin. Craniosynostosis can also be due I Pfeiffer has the most favorable progno- an anteriorly placed anus, and genital to metabolic conditions such as hyper- sis of the subtypes. anomalies. thyroidism, mucopolysaccharidosis, or Type II Pfeiffer syndrome is caused by rickets.5 Craniosynostosis has been asso- mutations in FGFR2 and is associated Other Disorders Featuring Cranio- ciated with various syndromes caused by with mental retardation, typical hand and synostosis and NonFGFR Mutations teratogens including diphenylhydantoin, feet changes, cloverleaf skull malforma- Saethre-Chotzen syndrome is a com- valproic acid, aminopterin, retinoic acid, tion, ankylosis of the elbows and knees, mon and variable craniosynostosis syn- and fluconazole.5 Finally, craniosynosto- exorbitism with inability to close the eyes drome caused by mutations in the sis can occur when the brain fails to grow completely, hydrocephalus, seizures, and TWIST gene.8 Typical manifestations as in extreme microcephaly. the risk of early death. The specific dis- include facial asymmetry, a low anterior tinguishing feature of this disorder is the hairline, small ears, ocular proptosis, and cloverleaf skull malformation.9 Type III asymmetric craniosynostosis. Digital ab- Molecular Biology of the Pfeiffer syndrome is caused by mutations normalities include two to three cuta- Craniosynostosis Syndromes in the FGFR2 gene. These patients are neous syndactyly and brachydactyly. In- Mutations in three FGFRs have similar to those with Type II but lack the telligence is usually normal although mild emerged as central to the common cra- cloverleaf skull.9 mental retardation has been reported.9 niosynostosis syndromes. FGFRs are re- Apert syndrome features brachyturri- Boston-type craniosynostosis is a rare ceptors for circulating FGFs. Seventeen cephaly and various degrees of exor- form with a highly variable phenotype FGRs are known regulators of cell pro- bitism. The hands are distinguished by that can include fronto-orbital recession, liferation, differentiation, and migra- soft tissue and bony syndactyly (mitten frontal bossing, brachyturricephaly, and tion.14 Each stimulates a cell membrane- hand), which is the hallmark of this dis- a cloverleaf skull or nonpenetrance. It associated FGFR. Surprisingly, there is order. The thumbs can be free or fused has been related to a mutation on the no specificity between the stimulating to the fingers. The feet exhibit similar MSX2 gene.13 FGF and the stimulated FGFR. Con- changes. Intelligence varies, with at least Antley-Bixler syndrome is a rare consequently, any FGF can stimulate any 50% exhibiting mental retardation.9 dition characterized by craniosynostosis, FGFR. Apert syndrome is caused by mutations radiohumeral synostosis, joint contrac- The FGFR molecule has three do- in FGFR2, and more than 98% of the tures, and femoral bowing. Recently, it mains: an extracellular domain, a trans- cases have identifiable mutations.18 has been shown to be due to mutations membrane domain, and a cytoplasmic Muenke craniosynostosis (also referred in the P450 oxoreductase gene. The domain. The extracellular domain con- to as FGFR3-associated coronal synosto- same phenotype occurs in fluconazole sists of three immunoglobulin-like do- sis syndrome) is a variable craniosynosto- embryopathy and is due to inhibition of mains. The binding of the FGF to the sis syndrome in which patients can have the P450 oxoreductase gene by high FGFR occurs at the second and third im- bilateral or unilateral coronal synostosis or doses of the antifungal fluconazole dur- munoglobulin-like domains. After an no craniosynostosis at all.17 Some muta- ing pregnancy.1 initial binding of FGF and FGFR, the tion-positive individuals exhibit mega- FGFR binds to another FGFR and cephaly as their only feature. The ex- Primary Craniosynostosis Without forms a dimer. As noted, any FGF can tremities in Muenke are also variable, but Known Mutations bind with any FGFR and the dimeriza- carpal tarsal fusion is typical. All cases of As noted, there are more than 100 tion can occur with any FGFR. Muenke craniosynostosis are caused by well-established genetic syndromes with The extracellular binding and dimer- mutations in FGFR3. known modes of inheritance. Among ization stimulate the third domain of the Jackson-Weiss and Beare-Stevenson the most common are Carpenter syn- FGFR, a split cytoplasmic tyrosine- syndromes are rare causes of craniosynos- drome, craniofrontonasal dysplasia, kinase domain. Once the tyrosine-ki- tosis related to mutations in FGFR2. Baller-Gerold, Philadelphia-type crani- nase domain is stimulated, it stimulates a Jackson-Weiss syndrome is distinguished osynostosis, Shprintzen-Goldberg, and complex sequence of intracellular sig- by relatively mild craniosynostosis and Opitz C syndrome. naling. The intermediate domain, the typical foot findings, including broad and intramembranous domain, anchors the medially deviated great toes, as well as var- Secondary Craniosynostosis receptor to the cell. However, muta- ious abnormalities of the tarsal bones.10 Craniosynostosis can occur pre- or tions in this domain can be associated Beare-Stevenson syndrome is remarkable postnatally on a nongenetic basis. Com- with malformation syndromes, particu- for cutaneous findings. In addition to pression of the fetal skull in the third larly achondroplasia, a mutation of mild craniosynostosis, these patients ex- trimester can cause closure along a spe- FGFR3 associated with decreased limb hibit redundant skin (cutis gyrata) and cific suture. Compression can be caused growth.

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Re markably, the FGFRs are respon- ple craniosynostosis associated with oxy- blindness. Optic atrophy can also result sible for restraining growth. Mutations cephaly and cloverleaf skull, retardation is from local factors such as foraminal steno- that enhance the activity of these recep- very common. sis or closure. tors can cause decreased growth, as seen There are no reliable figures for the in- in achondroplasia. Mutations that de- cidence of mental retardation associated Hydrocephalus crease the activity of these receptors with syndromic synostosis although rea- Hydrocephalus is most common in would be less likely to restrain growth sonable estimates have been offered. In- patients with multiple sutural synostosis, and are said to be “hypermorphic.” Early dividuals with Crouzon syndrome appear and its incidence appears to be highest in fusion of a cranial suture is a hypermor- to be among the least likely to exhibit Crouzon syndrome. The site of ob- phic event. mental retardation, with only 3% ex- struction is most often at the basal cis- Mapping the three involved FGFRs hibiting “marked” retardation.9 Saethre- terns, but aqueductal stenosis is also re- shows that Pfeiffer syndrome has been Chotzen syndrome is much like Crouzon ported. Increasingly, jugular venous associated with mutations in FGFR 1 syndrome in that affected individuals are obstruction is being recognized as the and 2. Strictly speaking, this finding typically normal. cause of the hydrocephalus. suggests what is suspected clinically: Type I Pfeiffer syndrome is usually as- Pfeiffer syndrome is heterogeneous. sociated with normal intelligence, but Cranial Nerve Dysfunction Crouzon’ syndrome is associated with individuals with Types II and III typical- The optic and auditory nerves appear mutations in all three immunoglobulin- ly exhibit severe retardation. Mental re- to be the cranial nerves most common- like domains of FGFR2. Apert syn- tardation is likely overestimated in Pfeif- ly affected in craniosynostosis. As noted, drome is associated with mutations fer syndrome by a factor of two or three dysfunction of the optic nerve is a con- between two immunoglobulin-like do- because of the severe visual and audito- sequence of increased intracranial pres- mains. Remarkably, two separate fam- ry abnormalities in these individuals. sure or of stenosis of the optic foramina. ilies, one with Crouzon and one with The frequency of retardation associated Some degree of optic atrophy occurs Apert, have been associated with the with Apert syndrome is variable. The in as many as 20% of patients with same mutation. This phenomenon is mean IQ of such individuals is 70.9 Few Crouzon syndrome,12 and this incidence still unexplained. individuals have an IQ higher than 100, has been estimated to be as high as 80%.2 but occasionally patients with Apert syn- The frequency of optic atrophy is lower drome have a high IQ.4 Thus Apert syn- in almost all craniosynostosis syndromes Neurological Considerations drome and normal or high intelligence and occasionally in nonsyndromic synos- in Craniosynostosis are compatible. The intellectual perfor- tosis. Again, the greater the number of su- Neurologic alterations are common mance of individuals with FGFR3 tures involved, the more likely it is that in syndromic craniosynostosis and less (Muenke) craniosynostosis is relatively optic atrophy will develop. Other ocular common in isolated craniosynostosis. mildly affected, but 37% are said to have problems include strabismus and irrita- Not surprisingly, patients with substan- mild developmental problems.9 tion of the cornea from exposure caused tial alterations in skull shape have neuro- The cause of mental retardation is not by exorbitism. logical abnormalities. However, not all readily explained, but it is often attrib- Abnormalities of the auditory nerve neurological abnormalities can be attributed to the increased intracranial pres- are also important findings that necessi- uted to the bony changes. Some neuro- sure caused by hydrocephalus or de- tate audiological evaluation of all patients logical changes are primary defects that creased venous drainage or to anatomic with craniosynostosis. Although con- accompany the synostosis rather than the changes related to brain distortion. Pri- ductive hearing loss is the most common consequence of the craniosynostosis. This mary comalformations of the brain are cause of hearing in these syndromes, final section reviews the major neurolog- only rarely considered a cause of retar- nerve deafness also occurs. ical alterations associated with craniosyn- dation. ostosis syndromes. Increased Intracranial Pressure Diagnostic Evaluation Mental Retardation Increased intracranial pressure is also An abnormal head shape or size sug- Mental retardation is a common com- relatively common in the craniosynosto- gests the presence of craniosynostosis. plication of craniosynostosis. In primary sis syndromes. The increased pressure Typically, the normal shape is exaggerat- nonsyndromic craniosynostosis with only tends to be low grade and chronic. Severe ed either with a very brachycephalic or one fused suture, the rates of retardation headaches occur in 30 to 50% of cases of dolichocephalic head. An asymmetric are low. Estimates range from 2.4 to syndromic synostosis,4 and these head- head is associated with unilateral sutural 4.8%,4 which is similar to the general pop- aches may be correlated with increased involvement or with positional plagio- ulation. When a second or third suture intracranial pressure. Intracranial hyper- cephaly. When a markedly brachyce- is involved, retardation becomes more tension can also lead to papilledema, phalic, dolichocephalic, or plagiocephal- common. With the complex and multi- which can cause optic atrophy and even ic head is encountered, the possibility of

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craniosynostosis must be considered. A teration. If a patient exhibits an unclassi- 6. Cohen MM, Jr.: Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagno- very microcephalic head should also raise fiable pattern of changes, molecular sis. Am J Med Genet 45:300-307, 1993 the possibility of early sutural closure. Fi- probes can be used in an attempt to define 7. Cohen MM, Jr., MacLean RE: Craniosynostosis. nally, very unusual head shapes, such as the specific mutation involved. Diagnosis, Evaluation, and Management, 2nd ed. acrocephaly or cloverleaf skull, also sug- Molecular diagnostic laboratories now New York: Oxford University, 2000 gest craniosynostosis. offer testing for specific gene alterations 8. el Ghouzzi V, Le Merrer M, Perrin-Schmitt F, et al: Mutations of the TWIST gene in the Saethre- The initial evaluation for craniosyn- (i.e., FGFR1, 2 or 3 or the TWIST mu- Chotzen syndrome. Nat Genet 15:42-46, 1997 ostosis can be challenging. First, care- tation). Clinicians can also request a cra- 9. Gorlin RJ, Cohen MM, Jr., Hennekam RCM: Syn- ful palpation of the skull sutures for pa- niosynostosis panel that evaluates all in- dromes of the Head and Neck, 4th ed. New York: tency or “heaping-up” is undertaken. volved genes. Clinicians often encounter Oxford University, 2001 10. Heike C, Seto M, Hing A, et al: Century of Jack- If the suture is nonpatent at an age when patients with syndromic synostosis with- son-Weiss syndrome: further definition of clinical it should be patent or if there is a raised out a specific mutation identified, espe- and radiographic findings in “lost” descendants area along the suture (heaping-up), cra- cially in Crouzon syndrome. With a of the original kindred. Am J Med Genet 100: niosynostosis should be considered. Ex- strong family history of craniosynostosis 315-324, 2001 11. Hunter AG, Rudd NL: Craniosynostosis. I. Sagit- perienced clinicians can often distin- and no identified gene, it is sometimes tal synostosis: Its genetics and associated clini- guish between patent and nonpatent possible to identify mutations with com- cal findings in 214 patients who lacked involve- sutures, but imaging techniques may be plete sequencing of the known genes. ment of the coronal suture(s). Teratology 14: 185-193, 1976 needed. Standard x-ray evaluation can This option is usually available on a re- 12. Kreiborg S: Crouzon syndrome. A clinical and be helpful, but standard or three-di- search basis. roentgencephalometric study. Scand J Plast mensional computed tomography is Reconstr Surg Suppl 18:1-198, 1981 often necessary. 13. Ma L, Golden S, Wu L, et al: The molecular basis of Boston-type craniosynostosis: The Pro148— Once the presence of craniosynosto- Conclusion >His mutation in the N-terminal arm of the MSX2 sis is confirmed, the patient should be Craniosynostosis is a relatively com- homeodomain stabilizes DNA binding without al- examined for extracranial findings that mon disorder of children, and its etiol- tering nucleotide sequence preferences. Hum might indicate a specific syndrome. The ogy is heterogeneous. Causes may be Mol Genet 5:1915-1920, 1996 14. Mason IJ: The ins and outs of fibroblast growth eyes and extremities are most helpful in genetic, developmental, teratogenic, factors. Cell 78:547-552, 1994 this regard. The presence of hyper- metabolic, or idiopathic. Recently, the 15. McKusick V: Fibroblast growth factor receptor telorism or exorbitism is typical of syn- molecular biology of several cranio- 2: OMIM #176943. http://www.ncbi.nlm.nih dromic synostosis. Alteration of the synostosis syndromes, particularly the gov/entrez/dispomim.cgi?id=176943, 2004 16. Meyers GA, Orlow SJ, Munro IR, et al: Fibroblast hands and feet, either with cutaneous or FGFR-related disorders, has been elu- growth factor receptor 3 (FGFR3) transmem- bony syndactyly, or broadening of the cidated. This understanding, however, brane mutation in Crouzon syndrome with acan- thumbs or great toes is particularly com- has introduced new levels of complexi- thosis nigricans. Nat Genet 11:462-464, 1995 mon. ty that are not yet clearly understood. 17. Muenke M, Gripp KW, McDonald-McGinn DM, et al: A unique point mutation in the fibroblast After the patient is examined, a de- growth factor receptor 3 gene (FGFR3) defines a tailed pregnancy and family history is new craniosynostosis syndrome. Am J Hum necessary. Exposure to teratogens during Genet 60:555-564, 1997 18. Robin NH, Falk MJ: FGFR-related craniosynosto- early pregnancy or a family history of un- sis syndromes (FGFR-related): Gene reviews: usually sized or shaped heads can indi- www.genetests.org, 2003 cate an etiology for the patient’s abnor- 19. Rutland P, Pulleyn LJ, Reardon W, et al: Identical malities. It also can help determine the References mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet 1. Aleck K, Bartley D: Multiple malformation syn- patient’s prognosis and the risks of recur- 9:173-176, 1995 drome following fluconazole use in pregnancy: rence for subsequent pregnancies. Report of an additional patient. Am J Med Genet 20. Schell U, Hehr A, Feldman GJ, et al: Mutations Although some patients exhibit clear- 72:253-256, 1997 in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Hum Mol Genet 4:323-328, cut syndromic diagnoses, it is often still 2. Bertelsen TI: The premature synostosis of the 1995 necessary to test the patient with molec- cranial sutures. Acta Ophthalmol (Copenh) 36:1-176, 1958 21. Todd TW, Lyons DW: Endocranial suture closure: ular probes. Thus, if a patient has what 1. Adult males of white stock. Am Phys Anthro- 3. Bratanic B, Praprotnik M, Novosel-Sever M: Con- pol 8:23-25, 1924 appears to be Crouzon syndrome, the genital craniofacial dysostosis and cutis gyratum: physician should still attempt to identify The Beare-Stevenson syndrome. Eur J Pediatr the specific mutation involved and to de- 153:184-186, 1994 4. Camfield PR, Camfield CS: Neurologic aspects of termine the possibility that one parent is craniosynostosis, in Cohen MMJr (ed): Cranio- very mildly affected and the associated risk synostosis: Diagnosis, Evaluation, and Manage- for subsequent pregnancies. Moreover, ment. New York: Raven Press, 2001, pp 215-226 if a specific mutation is identified in a 5. Cohen MM, Jr.: The etiology of craniosynostosis, in Cohen MM, Jr. (ed): Craniosynostosis. Di- child, this information can be used to test agnosis, Evaluation, and Management, 1st ed. subsequent pregnancies for the same al- New York: Raven Press, 1986, pp 59-79

Principles of Craniofacial Surgery† he German, Max Picard, wrote that Stephen P. Beals, MD “A man is as good as his face appears ‡ T Patricia Glick, DMD to be. The essence of man dwells in the front of his face.” Jean Cocteau wrote “If The essential principle of care for those affected by a craniofacial anomaly is the there is a defect on the soul, it cannot be interdisciplinary approach. The craniofacial healthcare team evaluates and plans corrected on the face. But, if there is a treatment using established protocols individualized for each patient’s unique defect on the face and one corrects it, it expression of his or her syndrome. The axioms of craniofacial surgery, established can correct the soul.” Indeed, deformi- by Dr. Paul Tessier, have their roots in lessons learned from the treatment of fa- ties of the face significantly affect a per- cial injuries in World War II. Ideal timing of surgery, meticulous planning, use of son’s life, especially young impressionable facial skeletal osteotomies, autogenous bone grafts, rigid fixation, distraction os- children trying to define themselves as teogenesis, and soft tissue repair are the essential elements of craniofacial sur- individuals. gical reconstruction. Throughout history, and even among Key Words: cranial grafts, craniofacial surgery, craniofacial syndromes, medical professionals, facial deformity has craniofacial team been equated with mental retardation. This concept has been perpetuated by the movie and advertising industries. In- deed, the unfortunate child born with a severe facial deformity has little chance of developing healthy self-esteem, which is required to lead a normal life. One needs only to meet one such child to re- alize the severe inner torment that is en- dured each day. Craniofacial centers, using an interdisciplinary approach, have been established to treat such children. The development of craniofacial techniques has made possible osteotomies of all facial bones and repositioning in almost any direction necessary, including repositioning the brain within the cranium. The result has often improved the appearance, behavior, achievement, and self-esteem of patients.7 This article briefly reviews the history of craniofacial surgery and considers how an interdisciplinary team approach helps optimize outcomes for patients. Craniofacial Center, Barrow Neurological Institute, St. Joseph’s Hospital and Medical Center, Phoenix, Arizona ‡Craniofacial Center and Children’s Rehabilitative Services, Barrow Neurological Institute, St. History of Craniofacial Surgery Joseph’s Hospital and Medical Center, Phoenix, Arizona The first efforts to correct facial skele- †Adapted from Beals SP: Principles of craniofacial surgery. BNI Quarterly 2(1):17-21, 1986. tal deformities began during World War I,

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which produced severe traumatic defor- thusiastic about his techniques, and he The Team Approach mities that required repositioning of frac- continued.11 From the inception of contemporary tured facial bones or reconstruction of Violating many of the conventional craniofacial surgery, Tessier worked with missing parts. Techniques and concepts surgical principles of the day, Tessier many specialists of the head region to developed further during World War II. proved that his radical approaches allowed help him evaluate and treat these patients. Subsequently, these techniques were ap- severe, previously untreatable deformities Professionals of all disciplines who are in- plied to the correction of congenital cra- to be corrected. His guiding fundamen- terested in head and neck diseases have niofacial deformities. tal principle was as follows: If a craniofa- many overlapping areas of expertise. In Many surgeons have helped advance cial defect was caused by an underlying the 1960s it was established that children the field of craniomaxillofacial surgery. skeletal deformity, the only solution was with clefts are best treated by well-coor- Three surgeons, however, have made to reposition the skeleton or to recon- dinated teams of specialists. In the 1970s major contributions. Sir Harold Gillies struct it with autologous bone grafts. craniofacial deformity teams evolved made the transition between reconstruc- from teams treating patients with clefts tion of traumatic deformities to correc- of the lip and palates.5,6 The rationale for tion of major congenital deformities. such a team is well accepted: Patients Professor Hugo Obwegeser developed with craniofacial deformities and their techniques for correcting the lower fa- families have a complex interplay of phys- cial skeleton. Dr. Paul Tessier, however, ical, mental, and emotional factors that is the true pioneer of contemporary cra- require expertise not possessed by a sin- niofacial surgery (Fig. 1).1 gle health-care discipline. In 1957 Tessier saw a 20-year-old pa- Today this “healthcare team” is the tient with severe exorbitism and a dominant organizational structure for the grotesque craniofacial configuration. He delivery of care to patients with cranio- later recognized this set of deformities as facial differences. The contemporary Crouzon disease and realized that the or- craniofacial team is based on an interdis- bital maxillary and facial abnormalities ciplinary model. The team meets regu- must be treated simultaneously. As he larly to assess and plan, and each profes- studied the problem, he realized that a sional performs an individual assessment radical solution was necessary. He prac- of the patient before sharing findings and ticed on cadavers at the Department of agreeing on recommendations.14 The Anatomy in Nantes. Later, at surgery, he keys to success for the interdisciplinary advanced the entire facial skeleton 2.5 team are vigilant concern for the patient, cm using bone grafts to fill the spaces. In shared input, and respect across profes- the late 1950s and 1960s, he treated other Figure 1. Paul Tessier. From Jackson IT, sional lines. Ultimately, the overall phys- patients with craniosynostosis and or- Munro IR, Salyer KE, Whitaker LA (eds): ical and emotional health of these com- bital hypertelorism. He waited 3 years Atlas of Craniomaxillofacial Surgery, St. plicated patients depends on the clinical Louis: Mosby, 1982. Copyright Elsevier, before operating on his first case of orbital 1982. expertise of each team member and on hypertelorism, obviously a reflection of meaningful participation from the pa- the respect that he had for this radical sur- tient and family.13 gery. Based on this principle, Tessier devel- Several factors created the need for a In 1967 in Montepellier, Tessier pre- oped three techniques previously con- team approach to provide patients with sented his first case at the meeting of the sidered impossible. First, extensive areas craniofacial deformities with the appro- French Society of Plastic Surgery. His of the craniofacial skeleton could be priate comprehensive treatment. First, presentation was well received, but its devascularized completely by stripping the nature of craniofacial deformities re- full impact was not appreciated until he the periosteum and repositioning the quires that specialized professionals from reported his work at the International bones. Second, circumferential mobi- the many disciplines related to the head Congress in Rome in 1967.2,16 Subse- lization of the orbital contents allows the evaluate and treat these patients (Table 1). quently, Tessier invited about 20 peo- eye to be moved in any of the three planes The role of each team member is well ple, including several leading plastic sur- without affecting vision. Finally, simul- described in the literature.2,4-6 Second, geons and specialists in other disciplines, taneous intracranial and extracranial the rarity of these deformities does not to observe his techniques. He request- surgery, which would allow radical allow a sufficient number of cases for spe- ed their criticism and stated that he movement of the orbit and skull for re- cialists in every medical center to gain the would stop this surgery immediately if construction, could be performed. necessary experience and skill to man- they thought the procedure was too rad- These three principles remain funda- age these patients safely. Third, the es- ical. The group was amazed and en- mental to craniomaxillofacial surgery. tablishment of craniofacial centers allows

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sion and must plan the corrections. Table 1. Disciplines Represented on a Craniofacial Team Members of the psychosocial disciplines Anesthesiology Orthodontics are especially important in evaluating the Anthropology Otolaryngology patient’s mental capacities, emotional mi- Audiology Pediatrics lieu, and the impact of the deformity on Computer sciences Pedodontics the patient and family. These profes- Genetics Photography sionals make projections about the effect Medical illustration Plastic surgery of the corrective surgery, which may be Neuroradiology Prosthodontics indicated or contraindicated on the basis Neurology Psychiatry of emotional considerations alone. The Neurosurgery Psychology unique perspective of these team mem- Nursing Radiology bers helps keep the other members aware 3 Ophthalmology Social services of the larger picture. Oral surgery Speech pathology After the patient’s assessment is completed, each participating member makes recommendations at the team meeting. The craniofacial surgeon then assimilates these findings and determines the final longitudinal study of patients to docu- proach provides the best opportunity for treatment plan.9 ment long-term outcomes of treatment. gathering, analyzing, and assembling in- Such follow-up is essential to foster the formation. In turn, this process pro- development of new ideas and to evalu- vides the basis for the most accurate and Timing of Surgery ate the effect of these radical procedures complete diagnosis, prognosis, and treat- In patients whose deformity merits on the growth of the craniofacial skele- ment plan.13 surgical treatment, four factors affect the ton. Finally, the reality of health care de- timing of their procedure: their age, the mands that this interdisciplinary care be effect of further growth, the severity of performed as cost effectively as possible. Planning the deformity, and the psychosocial ef- Increasingly, third-party payers and state Craniofacial team members must be fects on patient and family.2 agencies for disabled children favor cen- trained to think about major skeletal de- As a general guideline and if techni- tralization of care.4,6 formities. When correction of a crani- cally feasible, it is preferable to operate To be successful, a craniofacial team ofacial deformity is planned, facial pro- on patients at as young of an age as pos- requires an adequate number of patients, portions must be emphasized. In the sible.1 Growth does not improve skele- enthusiastic input from each participat- lower face, there are many ways to tal deformities. Indeed, some problems ing professional, and strong organization. achieve normal occlusion. Not all of (exorbitism and malocclusion) become The goals of the team are to diagnose, these methods, however, would provide worse with growth. Delaying treatment to plan and execute treatment, and to aesthetically pleasing facial proportions. can require more radical surgery with provide long-term follow-up that con- It is also important to understand the nat- less chance of achieving the best out- siders all the ramifications of the disorder ural history underlying the growth and comes. and its treatment. development of a given deformity in re- Psychosocial concerns, however, of- Craniofacial teams often have a med- lationship to a normal face. ten override all other factors. Children ical director dedicated to the treatment Evaluation begins with clinical as- must develop a healthy self-esteem to be- of craniofacial disorders. A parallel non- sessment by the craniofacial surgeon. come well-adjusted adults. Children who medical administrator or coordinator is Problems are noted and analyzed indi- spend their formative years among peers responsible for organizing and coordi- vidually. The craniofacial surgeon must tormented about their disfigurement are nating activities among the various pro- organize a preoperative assessment of unlikely to develop a good self-image. fessionals, agencies, patient, and family. each problem prepared in conjunction Thus, it is better to treat certain defor- The team meets regularly to assess pa- with the other team members. The neu- mities surgically at an early age even tients. The results of these evaluations roradiologist has the key role of delineat- though some procedures may need to must be communicated to the patient, ing the craniofacial skeletal anomaly. be repeated as growth alters the correc- responsible agencies, and primary-care Three-dimensional computed tomog- tions that were achieved. Indeed, it is providers.17 Good organization and open raphy is essential for this purpose. When easier for patients to cope with their de- communication are essential to insure a patient’s orbits must be moved during formities if treatment markedly improves that patients receive the appropriate care. surgery, the neuro-ophthalmologist must their appearance and they know that fu- For the patient with an acquired or provide a detailed assessment. The or- ture surgery will improve their appear- congenital facial deformity, the team ap- thodontist evaluates the patient’s occlu- ance even more.8

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With these concepts in mind, gener- hypotensive anesthesia. Preoperatively, easy harvest and ease of contouring in al guidelines have been established to de- the patient requires a clinical evaluation, areas such as the orbit and zygoma. Cos- termine the timing for surgical correc- and rapport should be established with tochondral bone grafts are used to re- tion of some deformities. Patients born the patient and family. The airway and construct the ramus and temporoman- with craniosynostosis should be treated potential difficulty with intubation must dibular joints in patients with hemifacial within the first 6 to 9 months, preferably be assessed. Maxillary, mandibular, and microsomia. They are also used for nasal within the first few months of life. Like- cervical spine anomalies often must reconstruction. wise, encephaloceles should be correct- be considered. Blood must be cross- The use of split cranial bone repre- ed as early as possible. Orbital hyper- matched for 1.5 times the estimated loss sents one of the recent advances in cra- telorism or dystopia, which requires of blood volume. niofacial surgery. The bone can be har- moving the entire orbit, is difficult to Controlled hypotensive anesthesia is vested through well-concealed scalp correct technically before the age of 2 an asset to craniofacial surgery. Mean ar- incisions by one of two techniques. If a years. Advancing the infant’s forehead terial pressure is reduced to about two- relatively small amount of bone is need- may help prevent exorbitism. At the age thirds of the patient’s normal value. This ed and a craniotomy is unnecessary, the of 5 or 6 years, the skeleton is mature technique greatly facilitates surgery. It outer table can be harvested with the use enough to advance the forehead and not only decreases the amount of blood of burs and osteotomes. The inner table maxillary bones simultaneously. Exor- loss and thus the amount needed for is left intact to protect the brain. If larg- bitism severe enough to cause visual transfusion, it also reduces the length of er amounts of bone are needed or a cra- changes or corneal exposure can force the operation. niotomy is otherwise necessary, the bone early intervention. Patients with severe Postoperatively, severe swelling is segments can be removed as a full thick- maxillary retrusion can develop sleep common and airway precautions dom- ness piece and split using a power saw. apnea because their nasopharyngeal inate. Patients with intermaxillary fix- The outer table is replaced to reconstruct space is severely compromised. These ation may need to remain intubated the cranium.15 patients also may require early maxillary from several hours to several days. Post- For many craniofacial surgeons, a split advancement. operative pain is usually minimal in the cranial graft is the first choice because of Patients with Treacher-Collins syn- head and neck; it is primarily associated the ease of harvesting, minimal morbid- drome should undergo periorbital cor- with rib and iliac bone graft donor sites. ity and postoperative pain, and mini- rection before they begin school. Their The administration of analgesics should mization of operative sites. Furthermore, jaw and occlusal problems are best treat- be minimized after intracranial proce- cranial bone is membranous bone, as is a ed after their secondary dentition has dures.12 large proportion of the craniofacial skele- erupted and they have completed growth ton; therefore, it is thought to undergo as an adolescent. Patients with craniofa- Basic Principles less resorption than other types of grafts.12 cial microsomia have a wide range of ex- The keys to successful craniofacial Compared to the use of rib grafts, an- pressivity. Patients with severe cases surgery are careful preoperative plan- other advantage is that a large sheet of should undergo earlier skeletal correc- ning, skillful technical execution of the cranial bone can be harvested. The sheet tion and construction of absent bone osteotomies, and rigid fixation. The allows reconstruction of major facial seg- than those with mild cases.2 latter allows rapid bony healing and pre- ments without the need to combine Typically, problems are not correct- vents relapse.9 many smaller segments as is required ed surgically until after facial growth is The use of bone grafts is an impor- when rib grafts are used. The procedure completed. Again, however, psychoso- tant tool in craniofacial surgery. They are is then less time-consuming, and the graft cial considerations may dictate earlier used to fill gaps of advanced segments, to provides more stability to the recon- intervention in patients with severe construct missing segments, and to cor- struction during the early stages of heal- problems even though they may need rect an abnormal contour by onlay grafting. The one disadvantage of split crani- surgery later. ing.2 Three different sites can be used: al bone that remains to be solved is that iliac, rib, and cranial bone grafts. Al- it is much less pliable than rib grafts. Thus, though still preferred by many surgeons, it may not always be applicable when this Surgery iliac bone grafts have lost popularity be- feature is necessary, such as in orbital re- cause of their associated morbidity. Nev- construction. Anesthesia ertheless, it is a good source of bone Over time, the preferred surgical in- The anesthesiologist and surgeon when indicated. Furthermore, it is the cision in craniofacial surgery has changed. must have a close working relationship, best source of cancellous bone, which is In 1957 when Tessier performed his first each understanding the potential prob- used to graft alveolar cleft defects. Rib correction of Crouzon syndrome, he lems of the other. The anesthesiologist grafts and split cranial grafts are the most used multiple facial incisions. Bicoronal must be familiar with the techniques of common donor sites in craniofacial sur- incisions provided excellent exposure to neuroanesthesia, pediatric anesthesia, and gery. Rib grafts have the advantage of the cranium and upper facial skeleton.

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As the specialty has developed, the num- Conclusion ber of facial incisions has decreased. Al- Craniofacial surgery requires patients most all procedures can now be per- to be treated by a large specialized mul- formed through a bicoronal incision tidisciplinary team that can obtain ad- (Fig. 2), intraoral incision, or a combi- equate experience to maintain their nation of the two. These incisions are surgical expertise. A multidisciplinary often even adequate to correct orbital approach increases the safety of the pro- hypertelorism. Formerly, a disfiguring cedures, improves technique, and al- midline incision over the nose was con- lows longitudinal study of large groups sidered necessary. of patients. The timing of surgical intervention depends on the patient’s Complications growth, functional problems, and psy- The primary major complications as- chosocial considerations. The team sociated with craniofacial surgery include must consider that young children need death, brain damage, blindness, and in- to develop self-esteem to function nor- fection. A large combined report of 793 mally as adults. The keys to technical operations performed at six centers de- success of craniofacial surgery are good tailed some of the problems and compli- planning, precise execution of the os- cations associated with craniomaxillofa- teotomies, and rigid fixation. The de- cial surgery.18 The complication rate was velopment of patients’ social skills, inter- A 16.5%, and the mortality rate was 1.6%. The rate of blindness was less than 1% and that of brain damage was 0 to 0.5%. Infection occurred in 4.4% of cases. Fac- tors that reduced morbidity and improved outcomes were hypotensive anesthesia, short operative time, rigid stabilization of the mobilized bones at the end of the operation, few incisions, and extensive antibiotic therapy. Munro and Sabatier reported their experience of more than 12 years with 2,019 craniomaxillofacial procedures performed in 1,092 patients.10 Their overall mortality rate was 0.64%; the mortality rate di- rectly related to surgery was 0.18%. Major complications occurred in 14.3% of patients, but few had permanent sequelae. Infection, the most common complication, occurred in 5.3% of major operations. The authors noted that the incidence of complications was partially related to inexperience with craniomaxillofacial surgery. As they gained experience, their annual incidence of complications decreased to 5.4%. Experience creates familiarity, which is a major factor in reducing the length of surgery. This learning curve lends further support to the essential concept of performing craniomaxillofacial surgery at a major center where the craniofacial team obtains ex- B perience to develop and maintain expertise in performing these complicated pro- Figure 2. (A) The bicoronal incision provides good exposure of the (B) entire upper cedures. craniofacial skeleton.

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personal relationships, opportunities for 4. Marsh JL, Vannier MW: Comprehensive Care for 13. Stahl S, Chebret L, McElroy C: The team ap- education and career, personal expec- Craniofacial Deformities. St. Louis: Mosby, 2006 proach in the management of congenital and ac- 5. McCarthy JG: The concept of a craniofacial quired deformities. Clin Plast Surg 25:485-491, tations, and goals in life are all affected by anomalies center. Clin Plast Surg 3:611-620, 1998 how they perceive themselves and by 1976 14. Strauss RP: The organization and delivery of cra- how others perceive and react to them 6. Munro IR: Orbito-cranio-facial surgery: The team niofacial health services: The state of the art. in return. Appropriate craniofacial sur- approach. Plast Reconstr Surg 55:170-176, Cleft Palate-Craniofacial Journal 36:189-195, 1975 1999 gery performed by an experienced in- 7. Munro IR: Craniofacial surgery: A change of face. 15. Tessier P: Autogenous bone grafts taken from terdisciplinary team can help optimize Can Med Assoc J 117:210-211, 1977 the calvarium for facial and cranial applications. Clin Plast Surg 9:531-538, 1982 outcomes for patients with craniofacial 8. Munro IR: Early correction of craniofacial defor- deformities. mities, in Jackson IT (ed): Recent Advances in 16. Tessier P, Guiot G, Rougerie J, et al: [Cranio-naso- Plastic Surgery. New York: Churchill-Livingstone, orbito-facial osteotomies. Hypertelorism]. Ann 1981 Chir Plast 12:103-118, 1967 9. Munro IR: Panorama of craniofacial surgery, in 17. Thomas PC: Multidisciplinary care of the child Hernahan DA, Thompson HG, Bauer BS (eds): born with cleft lip and palate. ORL Head Neck Symposium on Pediatric Plastic Surgery. St. Nurs 18:6-16, 2000 Louis: Mosby:136-160, 1982 18. Whitaker LA, Munro IR, Salyer KE, et al: Com- References 10. Munro IR, Sabatier RE: An analysis of 12 years of bined report of problems and complications in 1. Freihofer HP: The timing of facial osteotomies in craniomaxillofacial surgery in Toronto. Plast Re- 793 craniofacial operations. Plast Reconstr children and adolescents. Clin Plast Surg constr Surg 76:29-35, 1985 Surg 64:198-203, 1979 9:445-456, 1982 11. Ortiz-Monasterio F: Atlas of Craniomaxillofacial 2. Jackson IT, Munro IR, Salyer KE: Atlas of Cra- Surgery. St. Louis: Mosby, 1982 niomaxillofacial Surgery. St. Louis: Mosby, 1982 12. Salyer KE: Recent developments in bone graft- 3. Lefebvre A, Munro I: The role of psychiatry in a ing, in Jackson IT (ed): Recent Advances in Plas- craniofacial team. Plast Reconstr Surg 61:564- tic Surgery. Edinburgh: Churchill-Livingstone, 569, 1978 1981

Distraction Osteogenesis of the Craniofacial Skeleton istraction osteogenesis, a technique Davinder J. Singh, MD Dfor lengthening bone, uses the body’s natural healing mechanisms to Since the early 1990s, distraction osteogenesis, a bone-lengthening technique, generate new bone. An osteotomy is has evolved for use in craniofacial surgery. This article reviews the applications, made in the area of bone deficiency, and advantages, and disadvantages of distraction osteogenesis of the craniofacial a device is placed that slowly elongates skeleton. the bone to its new dimension while Key Words: bone remodeling, craniofacial surgery, distraction osteo- natural ossification produces new bone genesis, hemifacial microsomia at the site of distraction.1 Before the ad- vent of distraction osteogenesis, bone lengthening or expansion was performed using osteotomies and bone grafts. Expansion was limited by the constriction of soft tissue and the vas- cularity of the graft. In 1905 Codivilla described the first use of osteodistraction in orthopedic surgery.1 As discussed in his historical overview,3 Ilizarov further developed the technique for use in the lower extremities in 1949. In 1992 McCarthy et al. reported the first application of distraction osteogenesis to lengthen the human mandible.5 This publication in the Eng- lish literature began the era of craniofacial distraction, which is now used at every level of the craniofacial skeleton. Distraction osteogenesis is most often used for congenital hypoplasia or growth restriction, but it has also been used for bone remodeling to fill gaps from posttraumatic defects or cancer re- section.9 The advantage of distraction osteogenesis is that it mimics the normal physiologic process, allowing time for soft tissue to remodel and adapt. Ex- pansion of the soft tissue envelope is the single most beneficial aspect that enables Abbreviations Used: CT, computed tomography; HFM, hemifacial microsomia greater skeletal distraction than can be achieved in traditional operations. Dis- Craniofacial Center, Barrow Neurological Institute, St. Joseph’s Hospital and Medical Center, traction osteogenesis also shortens sur- Phoenix, Arizona gical times and lengths of hospital stay,

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age. The latency period is followed by the activation phase in which the distractor device is activated to lengthen the gap between the bones. The device lengthens the gap 1 mm/day. This rate allows callus to form and the soft tissue envelope to expand slowly. After the appropriate length has been reached, the consolidation phase lasts twice as long as the time required for activation. During consolidation, the device provides temporary fixation B as the bone heals in its new position. A After the bone has healed, the device is removed.5,9

Applications of Distraction Osteogenesis to the Cranio- facial Skeleton Distraction osteogenesis can be used in most parts of the craniofacial skeleton and has been described for mandibular distraction, maxillary distraction at the Le Fort I level, maxillary distraction at the Le Fort III level, frontal facial (monoblock) distraction, and calvarial C D distraction.9 Distraction osteogenesis is most often used for distracting the Figure 1. Three-dimensional (A) frontal and (B) lateral CT scans of a 8-year-old boy with right HFM and a Pruzansky Type IIB mandible. (C) Lateral cephalogram shows semi- mandible or maxilla because it is ideal for 7 buried mandibular distractor after full activation and lengthening. (D) Postoperative three- correcting hypoplasia of these areas. dimensional CT scan shows the increase in the length and volume of the right mandibu- Mandibular hypoplasia is associated lar ramus. with both functional and aesthetic concerns. Functional concerns include airway compromise, feeding difficulties, obviates the need for bone grafting, re- age and size dictate the rate of distrac- speech problems, and dentition.8 Man- duces the likelihood of relapse, reduces tion. Devices can be uni-, bi-, or mul- dibular distraction is indicated in pa- the likelihood of transfusions, and offers tidirectional, and they can be internal or tients with hemifacial or bifacial mi- considerable postoperative control over external.6 Before the device is placed, crosomia, Treacher-Collins syndrome, the distraction of one or more bone seg- especially in the case of unidirectional Pierre Robin sequence, and posttrau- ments.6,7,9 devices, the vector must be determined. matic growth disturbance.6 Vector placement determines the direc- HFM is one of the most common tion of elongation or movement.2 After congenital anomalies with an incidence Process of Distraction preoperative planning has been com- of about 1 in 5000 births.4 In numerous Osteogenesis pleted and the device has been selected, cases of HFM, the mandible has been The process of distraction osteogen- the osteotomies are performed and the distracted with adequate bone to length- esis begins with preoperative planning, device is placed. After surgery, distrac- en (Fig. 1). In cases of severe hypoplasia, continues through several stages, and tion osteogenesis proceeds according to bone grafting is performed first. Then culminates with removal of the device. the phases of healing. the graft is lengthened via distraction as Preoperative planning entails deciding Distraction osteogenesis entails three the child grows. In a growing child, this on the location of distraction on the main healing phases: latency, activation, strategy offfers the opportunity to im- craniofacial skeleton and obtaining ap- and consolidation. Latency is the pe- prove function and appearance without propriate imaging studies such as three- riod that follows the osteotomy and ap- leaving permanent hardware, which dimensional CT, models, and cepha- plication of the device; it ranges from poses issues with growth restriction.5 lography. To some extent, the patient’s 1 to 7 days depending on the patient’s Devices may be internal or external based

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Figure 2. (A) Lateral cephalogram of a 17- year-old male with a unilateral cleft lip and palate and maxillary hypoplasia and retrusion. (B) Lateral cephalogram after external distraction at the Le Fort I level with a halo device shows Class I occlusion.

A B

A B C Figure 3. (A) Lateral cephalogram of a 7-year-old boy with Apert syndrome and midfacial hypoplasia who underwent advancement at the Le Fort III level for exorbitism and Class III malocclusion. (B) Three-dimensional model of this patient showing placement of internal distractor appliances for advancement at the Le Fort III level. (C) Lateral cephalogram at the completion of distraction shows the advancement of the midface and the improved proportions of the face and occlusion. on the patient’s age, size, and degree of and the greater is the need for the use of the craniofacial skeleton allows superior deformity. external devices. Postoperatively, exter- advancements in treatment and reduces Midface deficiency can also be cor- nal devices offer more vector control and the likelihood of relapse. Not all patients rected with distraction. Indications in- fine tuning of the distraction. In contrast, require such a large amount of distrac- clude severe maxillary hypoplasia and the the internal device has a fixed vector that tion, and a role for conventional, single- need for more than 10 mm of distrac- must be decided intraoperatively. stage procedures still exists. However, in tion. Patients with a cleft lip and palate Complications related to the proce- severely affected patients and in patients who have significant palatal scarring are dure are hardware infection and expo- who are still growing, distraction osteo- candidates, as are patients with syndromes sure, dislodgement of the device, device genesis has revolutionized the craniofa- such as Apert and Crouzon who have se- failure, premature consolidation, mal- cial surgeon’s ability to improve function vere midface retrusion.9 Advancement of union, and nonunion.7,9 Most patients and aesthetics in patients at a younger age the maxilla at the LeFort I (Fig. 2) and tolerate the distraction process well. than was once possible. III (Fig. 3) levels improves airway, masti- However, distraction requires a high de- cation, speech, and appearance. gree of compliance by the patient and Distractor devices can be either inter- family because it necessitates daily main- nal or external. Internal devices improve tenance and limits activities. cosmetic appearances and reduce the likelihood of dislodgement. However, not References all patients are candidates for internal de- Conclusion 1. Codivilla A: The Classic: On the means of lengthening in the lower limbs, the muscles and tissues vices. The more hypoplastic the bone is, Compared to traditional orthognath- which are shortened through deformity. Clin Or- the less room there is for internal devices ic procedures, distraction osteogenesis of thop Relat Res 301:4-9, 1994

BARROW QUARTERLY • Vol. 23, No. 2 • 2007 19 Singh: Distraction Osteogenesis of the Craniofacial Skeleton

2. Grayson BH, Santiago PE: Treatment planning 5. McCarthy JG, Schreiber J, Karp N, et al: Length- 8. Singh DJ, Bartlett SP: Congenital mandibular hy- and vector analysis of mandibular distraction os- ening the human mandible by gradual distrac- poplasia: Analysis and classification. J Cranio- teogenesis. Atlas Oral Maxillofac Surg Clin tion. Plast Reconstr Surg 89:1-8, 1992 fac Surg 16:291-300, 2005 North Am 7:1-13, 1999 6. McCarthy JG, Stelnicki EJ, Mehrara BJ, et al: Dis- 9. Yu JC, Fearon J, Havlik RJ, et al: Distraction os- 3. Ilizarov GA: Clinical application of the tension- traction osteogenesis of the craniofacial skele- teogenesis of the craniofacial skeleton. Plast stress effect for limb lengthening. Clin Orthop ton. Plast Reconstr Surg 107:1812-1827, 2001 Reconstr Surg 114:1E-20E, 2004 Relat Res 250:8-26, 1990 7. Mofid MM, Manson PN, Robertson BC, et al: Cra- 4. Kaban LB, Moses MH, Mulliken JB: Surgical cor- niofacial distraction osteogenesis: A review of rection of hemifacial microsomia in the growing 3278 cases. Plast Reconstr Surg 108:1103- child. Plast Reconstr Surg 82:9-19, 1988 1114, 2001

Oral Manifestations of Selected Craniofacial Conditions n 1998 the United States Maternal and Patricia Glick, DMD IChild Health Bureau defined “children with special health care needs” as “chil- Children born with clefts of the lip and palate; craniofacial syndromes such as dren who have or are at an increased risk Apert, oculoauriculovertebral, and Treacher-Collin syndrome; and chromosomal for chronic physical, developmental, be- abnormalities such as Down syndrome and 22q11.2 deletion syndrome experi- havioral, or emotional conditions, and ence significant dental morbidity. Their treatment is best planned by an inter- who also require health and related ser- disciplinary team approach. In this and other countries, coordinated care among vices of a type or amount beyond that re- surgeons, dental professionals, and other specialists is considered the standard quired by children generally.”28 This of care. Because these children have high rates of oral anomalies, early screen- group includes but is not limited to chil- ing, careful monitoring, and coordination of related services are important com- dren born with clefts of the lip and palate, ponents of their comprehensive care. craniofacial syndromes such as Apert and Key Words: 22q11.2 deletion syndrome, Apert syndrome, cleft lip, cleft Treacher-Collins syndrome, and chro- palate, cleidocranial dysplasia, craniosynostosis, hemifacial microsomia, mosomal abnormalities such as Down Treacher-Collins syndrome syndrome and 22q11.2 deletion syndrome. In addition to multisystem organ involvement, many of these patients experience significant dental morbidity. Consequently, they require coordinated dental, orthodontic, and surgical treatment plans. Coordinated care among surgeons, dental professionals, and other specialists is the standard of care for individuals with clefts of the lip and palate and craniofacial conditions. This article describes the oral and associated manifestations of a select group of patients with special health care needs.

Cleft Lips and Cleft Palates Cleft formation is a complex embry- onic process. Isolated clefts of the palate involve the uvula minimally and can involve the entire secondary palate (up to the incisive foramen). Unilateral clefts of the lip and palate involve the primary palate (lip to incisive foramen) as well as the secondary palate (uvula to incisive fo- Abbreviation Used: HFM, hemifacial microsomia ramen). Bilateral clefts of the lip and palate involve the primary and secondary Craniofacial Center and Children’s Rehabilitative Services, Barrow Neurological Institute, St. palates. Furthermore, clefts can be com- Joseph’s Hospital and Medical Center, Phoenix, Arizona plete, as described above, or incomplete

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involving less tissue. Genetically and em- bryologically, clefts of the primary palate Table 1. Classification of Dental Occlusions and clefts of the secondary palate are dis- Class Maxilla Mandible Overjet Clinical tinct entities. presentation The prevalence of complete clefts of IWithin normal Within normal Within normal Maxillary incisors the lip and palate (unilateral and bilateral) limits limits limits in contact with is higher than that of isolated clefts of the mandibular palate. Although the prevalence varies incisors among populations, on average 1 in 750 infants is born with a unilateral or bilater- II Prognathic Retrognathic Excess Maxillary incisors al cleft of the lip and palate. Interesting- anterior to ly, the prevalence of isolated cleft palates, mandibular incisors which is 1 in 2000, is constant across populations. The frequency of systemic malformations associated with unilateral and III Retrognathic Prognathic Reverse Mandibular incisors anterior to bilateral clefts of the lip and palate is 26.2% maxillary incisors while that of isolated cleft palates is 51.7%.5 Boys are affected with clefts of the lip and palate twice as often as girls, but girls are affected with isolated clefts of the rior position as in a noncleft individual.30 half of all children with a unilateral cleft palate twice as often as boys. In individuals with a bilateral cleft lip lip and palate with a primary cleft side The clefting process and subsequent and palate, the nasal bone is longer and lateral incisor are missing the permanent surgical interventions both contribute to the base is wider.39 The length of the an- cleft side lateral incisor. In rare instances clinically observable oral manifestations. terior cranial base is disproportionately a child with an absent cleft side primary Complete unilateral cleft lip and palate is smaller than the total length of the crani- lateral incisor has the permanent cleft a risk factor for poor midfacial growth al base. The length of both the maxilla side lateral incisor.40 The cleft side per- and frequently results in severe antero- and mandible is reduced.43 Similar to in- manent lateral incisor is absent 50.2% of posterior jaw disharmony. There is a gen- dividuals with a unilateral cleft lip and the time. In 10.9% of patients with a eral retrusion of the entire profile, in- palate, the height of the posterior maxil- complete unilateral cleft lip and palate, cluding the nasal bone and both upper lary alveolus is hypoplastic. Concomi- the noncleft side permanent lateral in- and lower jaws. Class III malocclusion is tantly, the posterior permanent teeth cisor is missing.23 After the cleft side lat- commonly observed (Table 1). The cra- overerupt.43 The maxillary incisors are eral incisor, the maxillary left second pre- nial base angle is more obtuse in a unilat- overerupted and retroclined. They can molar is the tooth most often absent.23 eral cleft population than in the unaffect- be improved with orthodontic treatment One in four patients with a unilateral ed population. The vertical height of and growth but usually retain some retro- cleft lip and palate has an absent or su- the anterior upper midface is reduced clination. pernumerary tooth not involving the while that of the anterior lower midface Besides the obvious discontinuity of teeth adjacent to the cleft.44 Ty pically, is increased. The result is an increase in tissue surfaces and scarring associated with more severe clefts are associated with ab- the total height of the face. Hypoplasia surgical repair, many oral manifestations sent teeth. of the posterior maxilla contributes to are associated with clefting. Natal or After absence of the cleft side lateral overeruption of posterior permanent neonatal teeth are far more prevalent in incisor, the most common abnormali- teeth and undereruption of anterior teeth. the cleft population than in the noncleft ties involve the size and shape of the cleft The combined result is reduced overbite population. Their prevalence is 2% in in- side tooth. Enamel defects of cleft side and overjet.34 fants with a unilateral cleft and 10% in central incisors are significantly more The profile of an adolescent with a those with a bilateral cleft. Unlike the prevalent when compared to the non- complete unilateral cleft lip and palate is noncleft population, neonatal teeth in the cleft side. Permanent cleft side incisors characterized by a relatively large nose cleft population are usually present in the have more enamel defects than primary and a retrusive lip emphasized by the un- maxillary incisor region. Neonatal teeth cleft side incisors. In both primary and derlying maxillary hypoplasia.10 In an in the cleft population are most often permanent dentitions, the defect is most adolescent with a complete bilateral cleft found in male babies.8 often a yellow opacity of the incisal lip and palate, the premaxilla protrudes In the case of a child with a unilater- third.25 The obvious prevalence of asso- and Class II malocclusion is often ob- al cleft lip and palate, the lateral incisor, ciated oral anomalies in individuals with served. This configuration improves when present, erupts distal to the cleft in clefts of the lip and palate underscores with growth, and in adulthood the max- both the primary and permanent denti- the need for early observation and care- illa often achieves the same anteroposte- tion 82.4% of the time.44 Approximately fully planned intervention.

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Apert Syndrome Class III malocclusion with a posterior ities. Enamel irregularities in the prima- Craniosynostosis, the premature fu- cross bite are universal findings. Patients ry and permanent dentition have been sion of one or more calvarial sutures, oc- with Apert syndrome always require care- reported, and hypomineralization of curs in 1 in 2500 births.29 This congen- ful dental monitoring and frequently re- enamel has been linked to the patient’s ital defect is mostly an isolated finding. quire staged orthodontic care. medical condition.20 Hypodontia has However, it is also part of about 100 dif- been noted in 13% of patients and dys- ferent syndromes, including Muenke, morphic crown formation in 15%.21 A Crouzon, Jackson-Weiss, Pfeiffer, Beare- 22q11.2 Deletion Syndrome resultant increase in dental caries has been Stevenson, and Apert syndrome among The deletion of chromosome 22q11.2 observed. Impaired oral health has been others. is one of the most common human ge- reported in 28% of patients. Dental Apert syndrome occurs in 1.5 of netic syndromes with an estimated inci- crowding, a single maxillary incisor, a 100,000 births.42 It is characterized by dence of 1 in 4000 live births.6 This dele- missing mandibular central incisor, and midface hypoplasia, bilateral symmetric tion accounts for almost all cases of delayed eruption and formation of per- hand and foot syndactyly, and craniosyn- velocardiofacial, DiGeorge, and cono- manent teeth have all been reported.14,16,21 ostosis. The syndrome has an autosomal truncal anomaly face syndromes.9 Signif- Due to the high prevalence of oral anom- dominant mode of transmission. Most icant phenotypic variability is associated alies in children with the 22q11.2 dele- cases are from sporadic mutations. with the 22q11.2 deletion syndrome, but tion syndrome, careful dental manage- Individuals with Apert syndrome have the basis of this variability remains unclear. ment and optimal preventive services are severe malocclusions caused by signifi- The wide range of clinical features in- suggested. cant craniofacial and dental abnormali- cludes but is not limited to congenital ties that require the coordinated services heart disease, palatal abnormalities, of a craniofacial team to treat. Minimal- neurologic manifestations, psychiatric Oculoauriculovertebral ly, at birth the coronal sutures are fused, findings, learning disabilities, immune Spectrum and a wide midline calvarial defect is pre- dysfunction, feeding difficulties, hypocal- The oculoauriculovertebral spectrum sent. Cranial-base abnormalities include cemia, renal abnormalities, characteristic of anomalies includes Goldenhar syn- reduced length of the anterior cranial base facies, and oral manifestations.27 These drome and HFM. After cleft lip and and platybasia.3 These abnormalities features have many clinical implications palate, HFM is considered to be the most contribute to midface deficiency and an including the possible need for antibiotic common craniofacial anomaly. It is char- anterior open bite. Orbital hypertelo- coverage and the likelihood of reduced acterized by mandibular hypoplasia and rism, shallow orbits, ocular motility dis- salivary flow related to systemic medica- by ocular and auricular anomalies. Its turbances, a depressed nasal bridge, a tion side effects. prevalence is 1 in 5600, and it affects “bird-beak”-shaped nose, and a trape- A dysmorphic facies is common in males and females in a 3:2 ratio.12 Gold- zoidal-shaped mouth are also common childhood and decreases with growth into enhar syndrome is at the more severe end findings. adulthood. Characteristic findings in- of this spectrum of anomalies. In addi- An isolated cleft palate is observed in clude hypertelorism with downslanting tion to the above anomalies, epibulbar about a third of patients. In the absence palpebral fissures; low-set and malformed dermoids and vertebral abnormalities also of a cleft, the soft palate is long and thick, ears; and a nose with a large root, nar- occur. a feature that sometimes contributes to rowed alar base, and short tip. Children The origin of oculoauriculoverte- respiratory distress. In contrast, the hard have thin lips and microstomia.13 Vertical bral anomalies remains uncertain. It is palate is short. Clinically, the palate is high maxillary excess and general facial muscle known to affect the formation of struc- and arched. It is typically described as hypotonia may contribute to a long face. tures derived from the first and second having a “byzantine” shape. A deep mid- Platybasia (obtuse cranial base angle) may branchial arches. There is evidence for line palatal furrow accentuates with age explain the observed facial flatness and vascular disruption and a genetic contri- as mucopolysaccharides accumulate. mild retrognathia.1 bution. Currently, its origin is considered Subsequent compression of the dental Palatal dysfunction is manifested by multifactorial. Historically, the oculoau- arch and midface hypoplasia combine to velopharyngeal incompetence (29%), riculovertebral spectrum of anomalies has produce a V-shaped maxilla that is defi- submucosal cleft palate (15%), overt cleft been described as a unilateral deformity. cient in the transverse dimension. palate (11%), bifid uvula (5%), and com- However, evidence suggests that both Ectopic eruption of the maxillary first plete cleft lip and palate (1%). An addi- sides of the mandible and face are affect- permanent molars and palatal eruption of tional 22% have suspected but undocu- ed to some degree.3 Major organ in- the maxillary second premolars are com- mented palatal dysfunction. Only 16% volvement includes cardiac, central ner- mon. Supernumerary teeth and absence of patients exhibit no palatal dysfunc- vous, pulmonary, renal, gastrointestinal, of teeth have been reported. Dental delay tion.27 and skeletal systems. of one year is present by age 6 and in- Children with a 22q11.2 deletion have In addition to hypoplasia of the creases with time.19 Severe crowding and an increased incidence of oral abnormal- mandible, the malar and temporal bones

BARROW QUARTERLY • Vol. 23, No. 2 • 2007 23 Glick: Oral Manifestations of Selected Craniofacial Conditions

and associated soft tissues are underdevel- dibular hypoplasia, eyelid colobomas, and multiple supernumerary teeth, and other oped. There is an association between characteristic facies. skeletal abnormalities. Hypertelorism, the bony malformation and underdevel- The distinctive appearance of a patient small or absent nasal bones, and a broad opment of the muscles of mastication.41 with Treacher-Collins syndrome results nasal base are observed. Lateral cephalog- On the most affected side, the parotid from severe hypoplasia of facial bones, in- raphy shows true wormian bones and re- gland may exhibit hypoplasia or aplasia. cluding the mandible, portions of the duced or absent paranasal sinuses. The Unilateral or bilateral cleft lip and palate frontal bone, supraorbital ridges, hyper- height and width of both the maxilla and and cleft palate are documented in 10% of teloric orbits, and possible overt clefting of mandible are underdeveloped.17 Closure patients, and macrostomia is present in the malar bones. Eyelid colobomas form of the mandibular symphysis is often de- 62% of cases. Reduced palatal width with in the outer third of the lower lid. Cilia layed, and a relative mandibular prog- asymmetric lifting of the soft palate, are partially absent, and the palpebral fis- nathism can result. Clinically, the face is velopharyngeal incompetence, and hear- sures slope downward. The ears are often brachycephalic with reduced height of ing loss are frequent findings.12 Depend- microtic, malformed, and malpositioned; the upper anterior face.15 Class III mal- ing on the severity of the deformity, the hearing loss is common. Because facial occlusion is most often observed.4 temporomandibular joint may be func- features are underdeveloped, the nose ap- Clefts of the hard and soft palates and tionally normal or completely absent. pears large. submucosal cleft palates have been docu- There is a resultant Class II asymmetric Cephalometric analysis reveals a re- mented.45 The noncleft palatal configu- skeletal malocclusion. Consequently, a duced cranial-base angle that decreases ration is often described as high and dental midline deviation, occlusal plane further with age.31 This reduction has arched. Significant morbidity is associat- cant, and crossbite are usually present. important implications for obstructive ed with major dental abnormalities. Pri- Patients with oculoauriculoverte- sleep apnea, which is a significant com- mary dentition develops and erupts nor- bral anomalies have dental delay on the plication of Treacher-Collins syndrome. mally. However, it does not exfoliate most affected side.11 Hypodontia is more The mandible has a short ramus, short normally because the roots of the prima- common in patients with oculoauricu- corpus, and poorly developed symphysis.2 ry teeth are not restored. Multiple su- lovertebral anomalies than in the unaf- The gonial angle is obtuse with severe an- pernumerary permanent teeth and fected population. Its incidence has been tegonial notching of the lower border. noneruption of permanent teeth are al- reported to range from 6.7% to 26.9%.22,26 The mandibular plane is particularly most always observed. Crown morphol- Enamel defects have been observed. On steep. The maxilla is vertically deficient ogy of the supernumerary teeth is often the most affected side, the mesiodistal di- and sometimes posteriorly positioned abnormal. The eruption of permanent ameter of the mandibular primary mo- with a clockwise rotation of the occlusal dentition has been delayed 2 to 3 years, lars and of the mandibular permanent plane.33,38 Resultant skeletal open bite, and permanent first molars have erupted molars is reduced.18 Of greater interest long lower facial height, and Class II and without surgical or orthodontic inter- perhaps is that the width of both the III malocclusions are common. vention.37 The mandibular molar root maxillary and mandibular permanent and Significant oral manifestations include can be significantly longer than normal primary molars is reduced on the less af- cleft palate or, less frequently, cleft lip and in patients with cleidocranial dysplasia.36 fected side.36 Patients with oculoauricu- palate in 35% of patients and macrostomia Supernumerary teeth are most often ob- lovertebral anomalies show significant cra- in 15% of patients. In the absence of a served in the mandibular premolar area niofacial and dental abnormalities, which cleft palate, a high, arched palate is com- and in the maxillary incisor and canine highlight their need for coordinated sur- mon. The most frequent dental anom- area.32 Cellular cementum of permanent gical, orthodontic, and dental care. aly is agenesis, primarily mandibular sec- teeth is lacking, and the acellular cemen- ond premolars. Hypoplastic enamel is tum is hyperplastic.24 Abnormalities of found in 20% of patients, and the maxil- root morphology are common. A sig- Treacher-Collins Syndrome lary first permanent molars erupt ectopi- nificant handicapping malocclusion often Treacher-Collins syndrome, also cally in 13.3% of patients.7 The parotid necessitates a long-term, coordinated or- known as mandibulofacial dysostosis and glands may be hypoplastic. Patients with thodontic and surgical treatment plan. Franceschetti syndrome, is a disorder in- Treacher-Collins syndrome have a high volving structures derived from the first incidence of dental anomalies and should and second branchial arches. The causa- be screened carefully. Conclusion tive gene, which has been identified, is The oral health of an individual is in- transmitted as an autosomal dominant trait terrelated to systemic health and overall with variable expressivity and penetrance. Cleidocranial Dysplasia well being. Children with special health The prevalence of Treacher-Collins syn- Cleidocranial dysplasia is a rare inher- care needs experience oral manifestations drome is 1:50,000.35 More than half of ited disordered often characterized by per- at a higher rate than unaffected children. new cases are considered new mutations. sistent open fontanelles, aplasia or hy- These documented oral manifestations Hallmark features include severe man- poplasia of the clavicles, short stature, are often responsible for significant mor-

24 BARROW QUARTERLY • Vol. 23, No. 2 • 2007 Glick: Oral Manifestations of Selected Craniofacial Conditions bidity. Early screening, careful monitor- 15. Ishii K, Nielsen IL, Vargervik K: Characteristics of 31. Peterson-Falzone SJ, Figueroa AA: Longitudinal jaw growth in cleidocranial dysplasia. Cleft Palate changes in cranial base angulation in mandibulo- ing, and coordination of related services Craniofac J 35:161-166, 1998 facial dysostosis. Cleft Palate J 26:31-35, 1989 are important components of the com- 16. Jaquez M, Driscoll DA, Li M, et al: Unbalanced 32. Richardson A, Deussen FF: Facial and dental prehensive care of children with special 15;22 translocation in a patient with manifestations anomalies in cleidocranial dysplasia: A study of health care needs. of DiGeorge and velocardiofacial syndrome. Am 17 cases. Int J Paediatr Dent 4:225-231, 1994 J Med Genet 70:6-10, 1997 33. Roberts FG, Pruzansky S, Aduss H: An x-radio- 17. Jensen BL: Cleidocranial dysplasia: Craniofacial cephalometric study of mandibulofacial dysosto- morphology in adult patients. J Craniofac Genet sis in man. Arch Oral Biol 20:265-281, 1975 Dev Biol 14:163-176, 1994 34. Ross RB: Treatment variables affecting facial References 18. Johnsen DC, Weissman BM, Murray GS, et al: growth in complete unilateral cleft lip and palate. Enamel defects: A developmental marker for hemi- Cleft Palate J 24:5-77, 1987 1. Arvystas M, Shprintzen RJ: Craniofacial morphol- facial microsomia. Am J Med Genet 36:444-448, 35. Rovin S, Dachi SF, Borenstein DB, et al: ogy in the velo-cardio-facial syndrome. J Cra- 1990 Mandibulofacial dysostosis, a familial study of five niofac Genet Dev Biol 4:39-45, 1984 19. Kaloust S, Ishii K, Vargervik K: Dental development generations. J Pediatr 65:215-221, 1964 2. Arvystas M, Shprintzen RJ: Craniofacial morphol- in Apert syndrome. Cleft Palate Craniofac J 36. Seow WK, Urban S, Vafaie N, et al: Morphometric ogy in Treacher Collins syndrome. Cleft Palate 34:117-121, 1997 analysis of the primary and permanent dentitions Craniofac J 28:226-230, 1991 20. Klingberg G, Dietz W, Oskarsdottir S, et al: Mor- in hemifacial microsomia: A controlled study. J 3. Cohen MM, Jr., Kreiborg S: A clinical study of the phological appearance and chemical composi- Dent Res 77:27-38, 1998 craniofacial features in Apert syndrome. Int J Oral tion of enamel in primary teeth from patients with 37. Shaikh R, Shusterman S: Delayed dental matura- Maxillofac Surg 25:45-53, 1996 22q11 deletion syndrome. Eur J Oral Sci tion in cleidocranial dysplasia. ASDC J Dent 4. Cooper SC, Flaitz CM, Johnston DA, et al: A nat- 113:303-311, 2005 Child 65:325-9, 355, 1998 ural history of cleidocranial dysplasia. Am J Med 21. Klingberg G, Oskarsdottir S, Johannesson EL, et 38. Sher AE, Shprintzen RJ, Thorpy MJ: Endoscopic Genet 104:1-6, 2001 al: Oral manifestations in 22q11 deletion syn- observations of obstructive sleep apnea in chil- 5. Croen LA, Shaw GM, Wasserman CR, et al: Racial drome. Int J Paediatr Dent 12:14-23, 2002 dren with anomalous upper airways: Predictive and ethnic variations in the prevalence of orofa- 22. Loevy HT, Shore SW: Dental maturation in hemi- and therapeutic value. Int J Pediatr Otorhino- cial clefts in California, 1983-1992. Am J Med facial microsomia. J Craniofac Genet Dev Biol laryngol 11:135-146, 1986 Genet 79:42-47, 1998 Suppl 1:267-272, 1985 39. Smahel Z: Craniofacial morphology in adults with 6. Cuneo BF: 22q11.2 deletion syndrome: DiGeorge, 23. Lourenco RL, Teixeira Das NL, Costa B, et al: Den- bilateral complete cleft lip and palate. Cleft Palate velocardiofacial, and conotruncal anomaly face tal anomalies of the permanent lateral incisors and J 21:159-169, 1984 syndromes. Curr Opin Pediatr 13:465-472, 2001 prevalence of hypodontia outside the cleft area in 40. Suzuki A, Watanabe M, Nakano M, et al: Maxillary 7. da Silva DG, Costa B, Gomide MR: Prevalence of complete unilateral cleft lip and palate. Cleft lateral incisors of subjects with cleft lip and/or dental anomalies, ectopic eruption and associat- Palate Craniofac J 40:172-175, 2003 palate: Part 2. Cleft Palate Craniofac J 29:380- ed oral malformations in subjects with Treacher 24. Lukinmaa PL, Jensen BL, Thesleff I, et al: Histo- 384, 1992 Collins syndrome. Oral Surg Oral Med Oral logical observations of teeth and peridental tis- 41. Takashima M, Kitai N, Murakami S, et al: Volume Pathol Oral Radiol Endod 101:588-592, 2006 sues in cleidocranial dysplasia imply increased and shape of masticatory muscles in patients with 8. de Almeida CM, Gomide MR: Prevalence of activity of odontogenic epithelium and abnormal hemifacial microsomia. Cleft Palate Craniofac J natal/neonatal teeth in cleft lip and palate infants. bone remodeling. J Craniofac Genet Dev Biol 40:6-12, 2003 Cleft Palate Craniofac J 33:297-299, 1996 15:212-221, 1995 42. Tolarova MM, Harris JA, Ordway DE, et al: Birth 9. Driscoll DA, Budarf ML, Emanuel BS: A genetic 25. Maciel SP, Costa B, Gomide MR: Difference in the prevalence, mutation rate, sex ratio, parents’ age, etiology for DiGeorge syndrome: Consistent dele- prevalence of enamel alterations affecting central and ethnicity in Apert syndrome. Am J Med tions and microdeletions of 22q11. Am J Hum incisors of children with complete unilateral cleft Genet 72:394-398, 1997 Genet 50:924-933, 1992 lip and palate. Cleft Palate Craniofac J 42:392- 43. Trotman CA, Ross RB: Craniofacial growth in bi- 395, 2005 10. Duffy S, Noar JH, Evans RD, et al: Three-dimen- lateral cleft lip and palate: Ages six years to adult- sional analysis of the child cleft face. Cleft Palate 26. Maruko E, Hayes C, Evans CA, et al: Hypodontia hood. Cleft Palate Craniofac J 30:261-273, 1993 Craniofac J 37:137-144, 2000 in hemifacial microsomia. Cleft Palate Cranio- 44. Tsai TP, Huang CS, Huang CC, et al: Distribution fac J 38:15-19, 2001 11. Farias M, Vargervik K: Dental development in patterns of primary and permanent dentition in hemifacial microsomia. I. Eruption and agenesis. 27. McDonald-McGinn DM, LaRossa D, Goldmuntz children with unilateral complete cleft lip and Pediatr Dent 10:140-143, 1988 E, et al: The 22q11.2 deletion: screening, diag- palate. Cleft Palate Craniofac J 35:154-160, 1998 nostic workup, and outcome of results; report on 12. Gorlin RJ, Cohen MM, Levin LS: Branchial arch 45. Winter GR: Dental conditions in cleidocranial 181 patients. Genet Test 1:99-108, 1997 and oroacral disorders, in Gorlin RJ, Cohen MM, dysostosis. Am J Orthodont 29:61-89, 1943 Hennekam RCM (eds): Syndromes of the Head 28. McPherson M, Arango P, Fox H, et al: A new defi- and Neck. New York: Oxford University Press, nition of children with special health care needs. 1990, pp 641-652 Pediatrics 102:137-140, 1998 13. Guyot L, Dubuc M, Pujol J, et al: Craniofacial an- 29. Muenke M, Wilkie AO: Craniosynostosis syn- thropometric analysis in patients with 22q11 mi- dromes, in Scriver CR, Beaudet AL, Valle D (eds): crodeletion. Am J Med Genet 100:1-8, 2001 The Metabolic and Molecular Basis of Inherited 14. Hall RK, Bankier A, Aldred MJ, et al: Solitary me- Disease. New York: McGraw-Hill, 2001, pp 6117- dian maxillary central incisor, short stature, choanal 6146 atresia/midnasal stenosis (SMMCI) syndrome. 30. Narula JK, Ross RB: Facial growth in children with Oral Surg Oral Med Oral Pathol Oral Radiol complete bilateral cleft lip and palate. Cleft Palate Endod 84:651-662, 1997 J 7:239-248, 1970

The Rotating Stool Test: Diagnosis and Management of Benign Positional Molding nfantile skull deformity from me- Harold L. Rekate, MD Ichanical factors is known by various names, including occipital plagiocepha- The Rotating Stool Test was developed to assess the value of a maneuver for the ly, BPM, and nonsynostotic deforma- diagnosis of BPM. A management scheme was derived from the test based on tional plagiocephaly. Each term has dis- the assessment of children referred for evaluation of abnormal head shapes. advantages and advantages. In this During the Rotating Stool Test, the examiner holds a child being assessed for discussion, I use the term BPM. BPM abnormal head shape while the parent (usually the mother) sits in a fixed posi- involves distortion of the infantile head tion across the room. As the examiner’s stool is rotated from side to side, the child with flattening of the occiput on one side attempts to continue to make eye contact with the parent. This test detects sub- and milder compensatory contralateral tle limitations in the child’s neck mobility. No child with BPM had a normal test. frontal flattening and bulging of the ip- Invariably, children with BPM are unable to rotate their head away from the flat- silateral forehead and contralateral oc- tened side of the head. They either break eye contact with the parent and look ciput. The ear on the side of the occip- at the examiner, or they rotate their entire body toward the parent. All patients with ital flattening is displaced forward and BPM have restricted neck movement as part of the pathophysiology of the con- inferiorly. dition. Mechanical treatments that concentrate on neck mobility are an impor- Two synostotic conditions, both of tant part of the management of this type of skull deformity. which may require surgical management, Key Words: benign positional molding, occipital plagiocephaly, rotating must be distinguished from BPM. stool test, skull deformity Frontal plagiocephaly is caused by unilateral coronal craniosynostosis. It involves an upward and lateral distortion of the orbit called the “harlequin eye” deformity. The prominent deformity of the forehead and mild-to-moderate de- formation of the occiput are specific to this condition. Unilateral lambdoid craniosynostosis may be the rarest form of single suture craniosynostosis and the most difficult to distinguish from BPM. The craniofacial program at the University of Washing- ton in Seattle has done considerable work to make this differential diagnosis easier to make. Unilateral lambdoid synostosis involves an ipsilateral mastoid bulge. The involved occiput is flattened, but the other skull changes are quite different from BPM. In true lambdoid synosto- Abbreviations Used: BPM, benign positional molding; CT, computerized sis, the flattened occiput is on the same tomography; SCM, sternocleidomastoid; SIDS, sudden infant death syndrome side as the flattened forehead. Therefore, the shape of the head is that of a trapezoid Division of Pediatric Neurosciences, Barrow Neurological Institute, St. Joseph’s Hospital and Med- rather than the parallelogram associated ical Center, Phoenix, Arizona with BPM.3,4,9

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Radiographic studies, particularly CT, This test has now been performed on can confirm the presence or absence of more than 300 babies referred for diag- true craniosynostosis. However, BPM is nosis and treatment of this condition. All primarily diagnosed by clinical examina- babies had significant difficulty main- tion. The finding of a parallelogram- taining eye contact with their parent shaped head when viewed from the ver- when the stool was rotated away from tex position, as described above, almost the side of the flattening. certainly reflects mechanical distortion of The condition known as sternomas- the head. During the examination of toid torticollis leads to this form of oc- many babies who were referred for this cipital plagiocephaly. This muscular tor- condition, I noticed that the infants had ticollis is considered responsible for about difficulty maintaining eye contact with a third of the cases. When a specific set their parent when they were turned away of tests of sternomastoid function was from the side of the flattened occiput. performed, the coexistence of SCM This simple test also confirms the me- dysfunction associated with BPM in- chanical nature of the condition and that creased to 76% while cervical muscular the abnormality is related to a disturbance torticollis was diagnosed in only 12%.7 of the musculature of the neck. This test, A Direct examination of the neck for mus- not previously published, has been cular torticollis is insufficiently sensitive adopted by the American Academy of to detect subtle asymmetry of neck ro- Pediatrics as part of its guidelines for the tation. When the rotating stool test is diagnosis and management of skull dis- used, 100% of babies with BPM will be tortion in infants.14,18 found to have subtle problems with neck This article describes the Rotating mobility. Stool Test, how it is performed, how it leads to the diagnosis of BPM, and its value in emphasizing the importance of Clinical Implications neck-stretching exercises in the manage- What is the value of this simple clini- ment of this condition. Although the lit- cal assessment? First, it is very unlikely erature emphasizes the role of shorten- that babies with true craniosynostosis will ing of the SCM muscle, shortening of have limited neck mobility. Therefore, the trapezius muscle may be responsible this test is an excellent way to confirm in a significant percentage of cases. the diagnosis of a mechanical condition rather than a genetically determined sutural closure. Second, and certainly more The Rotating Stool Test B importantly, the parents recognize that This test evolved spontaneously in my Figure 1. Artist’s representation showing the problem is mechanical and related to office and reflects my personal approach how to perform the Rotating Stool Test. neck mobility. In my opinion, the most to the examination of these babies. From (A) When the child is rotated toward the important form of treatment for this con- the pediatric surgical literature, I was side of flattening, the neck easily rotates dition should focus on the underlying to bring the chin to the shoulder. (B) When aware of the presence of sternomastoid rotated away from the side of the flatten- cause. Hence, the parents need little fur- 11,12,16 “tumors.” Consequently, I exam- ing, the child needs to break the contact ther encouragement to perform the ined the neck of each child but rarely, if or rotate the trunk to maintain it. needed neck-stretching exercises. ever, palpated a mass or lump. Typically, Initially, all babies with BPM should I begin the examination of a baby by be managed with neck-stretching exer- picking up and holding the infant in my maintaining eye contact with the moth- cises. Other authors have emphasized arms to examine the shape of the head er and could move the chin all the way to laying the babies prone when awake and to palpate the fontanel. I usually sat the ipsilateral shoulder (Fig. 1A). In con- (“tummy time”) and restructuring the on a rotating stool facing the parent, typ- trast, when I rotated the chair in the other child’s environment to encourage the ically the mother. As the conversation direction, the baby had difficulty main- child to change positions. However, lim- proceeded, I tended to move the stool taining eye contact. The baby either ited neck mobility often renders these around and to rotate it from side to side. turned toward the flat side and looked up forms of treatment futile.10,15 In contrast, When I rotated the stool toward the side at me or attempted to maintain contact my protocol for the management of of the occipital flattening, it soon became with the mother by rotating the entire BPM strongly emphasizes stretching the obvious that the baby had no trouble upper body (Fig. 1B). muscles of the neck (Fig. 2).

BARROW QUARTERLY • Vol. 23, No. 2 • 2007 27 Rekate: The Rotating Stool Test: Diagnosis and Management of Benign Positional Molding

A B

Figure 2. Artist’s representation of the neck-stretching exercises derived from the Rotating Stool Test. (A) Neck rotation for assessing and stretching the SCM muscle. (B) Neck tipping for assessing and stretching the trapezius muscle.

To stretch the SCM muscle, the child A baby always resists one of these ex- bies were found to have BPM; most of is positioned on the changing table. The ercises more than the other three. This these cases resolved within the first few person changing the diaper holds the tendency makes it possible to diagnose months of life.1,2 Two processes have now child’s chest gently in position with the the specific muscle that is involved. As converged to make the diagnosis and nondominant hand while holding the mentioned, 76% of cases of BPM can be treatment of this condition more com- child’s forehead with the dominant hand. explained by a shortening or tightening mon. The first was the dissemination of The head is then firmly rotated until the of the SCM muscle. In my experience, information as sophisticated craniofacial chin lies on the shoulder. This position about a third of the babies needing these programs were developed. Parents be- is held for 10 seconds (count one 1000, neck-stretching exercises have specific came aware of their children’s deformi- two 1000, and so on). The head is then tightness of the trapezius muscle rather ties and were referred to centers where rotated in the opposite direction and than the SCM muscle. The trapezius ex- appropriate diagnoses could be made. maintained for 10 seconds. Next, atten- tends the head, unilaterally rotates the The second process was the recognition is paid to the trapezius muscles. The head up, and tips the head to the contra- tion of the direct relationship between head is tipped to the side until the ear lies lateral side. Cases of BPM that cannot SIDS and prone-sleeping positions in against the shoulder, and this position is be explained by abnormal function of 1992. This awareness led to the Back to held for 10 seconds. The maneuver is the SCM muscle probably involve the Sleep program, which encouraged moth- then repeated on the contralateral side. trapezius muscle. All BPM likely stems ers to maintain their babies in a supine or These four exercises are repeated two from in utero constriction and shorten- side-lying position and to avoid the prone more times each so that each stretch is ing of the strap muscles of the neck. position except when the babies were performed three times. under constant observation and com- I believe that it is essential to do these pletely awake.5 The success of the aban- stretches frequently. Consequently, I ask Back to Sleep and BPM donment of prone lying has primarily that all caretakers learn how to do them The baseline prevalence of BPM is been attributed to media attention. Hap- and for the exercises to be performed at uncertain. Skull deformity has been pily, the incidence of SIDS has decreased each diaper change. The babies tend to found in skeleton remains of historic so- 40%.6 An unexpected consequence of be frightened for the first few days, but cieties.19 Before the Back to Sleep pro- this program, however, was a dramatic the exercises soon become part of their gram was instituted by the American increase in the number of children re- normal routine. Academy of Pediatrics, about 3% of ba- ferred and treated for BPM.10,18

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Personal Approach to the Informally, I have also polled a large not rule out the possibility that surgery Management of BPM number of individuals who should be fa- may be necessary in some cases referred Early recognition of BPM or occipi- miliar with BPM if the condition were late or resistant to treatment, but it should tal plagiocephaly leads to the most effec- widespread. Barbers, hairdressers, and be limited to the most severe cases.18 tive management of the condition. Un- dentists have all denied being aware of fortunately, the condition can rarely be the condition. The only professionals diagnosed during the newborn period. who consistently recognized the prob- Conclusion In a well-designed Dutch Study of 380 lem were opticians. They had a difficult Cranial asymmetry and occipital flat- well newborns, 23 (6%) had significant time fitting eye glasses for such patients tening are common, and their incidence degrees of asymmetry only 9 of which and occasionally needed to fit a pair with has grown since supine-lying strategies were asymmetrical at 7 weeks of age. one wing shorter than another. were adapted to prevent SIDS. The Ro- During that time, 75 other babies devel- I participate in many educational tating Stool Test can help diagnose posi- oped significant asymmetry. Conse- events to make primary care physicians tional molding and points to the impor- quently, the overall percentage of babies and nurse practitioners aware of this tance of mechanical treatment such as with significant BPM was 22% (84 of problem so that it can be diagnosed dur- neck-stretching exercises in the manage- 380). The flattening had occurred during early infancy. If the neck-stretching ment of this common condition. ing the interim at the time of maximum exercises can be commenced before the skull plasticity. All babies receiving well age of 6 months, it is unlikely that any baby care are seen at about 7 to 8 weeks other form of treatment will be neces- of life for their initial inoculations. At sary. Most of these patients are now cared that time, the examiner should view the for by their primary care physicians, but baby from the top of the head. If flat- I have been active in the assessment of References tening is noticed at that time and neck- their need for cranial remodeling bands 1. Clarren SK: Plagiocephaly and torticollis: Etiolo- stretching exercises are instituted prompt- to help patients obtain payment from gy, natural history, and helmet treatment. J Pe- ly, it is unlikely that other forms of their insurance plans. I have testified be- diatr 98:92-95, 1981 treatment will ever be necessary. fore the new devices committee of the 2. Clarren SK, Smith DW, Hanson JW: Helmet treatment for plagiocephaly and congenital muscu- Cranial remodeling helmets or bands Arizona Health Care Cost Containment lar torticollis. J Pediatr 94:43-46, 1979 1,2,8,13 effectively manage BPM. Howev- System, which is the state of Arizona’s 3. Ehret FW, Whelan MF, Ellenbogen RG, et al: Dif- er, these devices are expensive. The use Medicaid health maintenance organiza- ferential diagnosis of the trapezoid-shaped head. of the band is analogous to orthodontia in tion. I have recommended that all pa- Cleft Palate Craniofac J 41:13-19, 2004 4. Ellenbogen RG, Gruss JS, Cunningham ML: Up- that the bands require frequent adjustment tients be assessed as early as possible after date on craniofacial surgery: The differential di- to maximize their benefit. Which chil- their first inoculation and that they begin agnosis of lambdoid synostosis/posterior pla- dren require the use of the bands? After the exercises. If the condition has not giocephaly. Clin Neurosurg 47:303-318, 2000 a thorough review of the literature on cra- improved considerably after 2 months, 5. Gibson E, Cullen JA, Spinner S, et al: Infant sleep position following new AAP guidelines. American nial asymmetry to determine the late neg- the patient should be considered for cra- Academy of Pediatrics. Pediatrics 96:69-72, 1995 ative outcomes associated with this con- nial remodeling therapy. This strategy 6. Gibson E, Dembofsky CA, Rubin S, et al: Infant dition,20 I found only four cases of adults has led to improved care and decreased sleep position practices 2 years into the “Back who required surgery for this condition. demand for cranial remodeling bands. to Sleep” campaign. Clin Pediatr (Phila) 39:285- 289, 2000 Two of these four adults underwent lysis Several studies have shown that me- 7. Golden KA, Beals SP, Littlefield TR, et al: Sterno- 17 of the SCM muscle for torticollis. There chanical treatment of BPM is effective. cleidomastoid imbalance versus congenital mus- were no reports of orthodontic or diffi- One study compared mechanical treat- cular torticollis: Their relationship to positional plagiocephaly. Cleft Palate Craniofac J 36:256- culties with the temporomandibular joint, ment to orthotic treatment. Both were 261, 1999 no association with strabismus, and no effective, but the time required to achieve 8. Graham JM, Jr., Gomez M, Halberg A, et al: Man- functional deficits as a result of expectant a good result was three times longer in agement of deformational plagiocephaly: Repo- treatment for this condition.20 the patients treated mechanically com- sitioning versus orthotic therapy. J Pediatr 146: Anecdotally, after observing large pared to the banded patients.15 Early di- 258-262, 2005 9. Huang MH, Mouradian WE, Cohen SR, et al: The numbers of normal individuals in social agnosis and mechanical treatment of the differential diagnosis of abnormal head shapes: situations such as theaters and sporting torticollis are the primary ways that BPM Separating craniosynostosis from positional de- events, I have identified only two adults should be managed. The use of cranial formities and normal variants. Cleft Palate Cra- niofac J 35:204-211, 1998 who would have wished to have been remodeling bands should be reserved for 10. Hutchison L, Stewart A, Mitchell E: Infant sleep treated for this condition during infan- patients referred late or for those unre- position, head shape concerns, and sleep posi- cy. One was a scientist with a large head sponsive to neck-stretching exercises. tioning devices. J Paediatr Child Health 43:243- and severe plagiocephaly who had con- The official position of the American 248, 2007 11. Krugman ME, Canalis R, Konrad HR: The ster- siderable trouble finding a football hel- Academy of Pediatrics relative to surgery nomastoid “tumor” of infancy. J Otolaryngol 5: met that fit. for this condition is cautious. They do 523-529, 1976

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12. Ling CM, Low YS: Sternomastoid tumor and 15. Loveday BP, de Chalain TB: Active counterposi- 18. Persing J, James H, Swanson J, et al: Prevention muscular torticollis. Clin Orthop Relat Res 86: tioning or orthotic device to treat positional pla- and management of positional skull deformities 144-150, 1972 giocephaly? J Craniofac Surg 12:308-313, 2001 in infants. Pediatrics 112:199-202, 2003 13. Littlefield TR, Beals SP, Manwaring KH, et al: 16. Macdonald D: Sternomastoid tumour and mus- 19. Pospihilova B, Prochazkova O: Paleopathologi- Treatment of craniofacial asymmetry with dy- cular torticollis. J Bone Joint Surg Br 51:432- cal findings of dry skulls with plagiocephaly. Acta namic orthotic cranioplasty. J Craniofac Surg 9: 443, 1969 Medica (Hradec Kralove) 49:219-226, 2006 11-17, 1998 17. Moss SD: Nonsurgical, nonorthotic treatment of 20. Rekate HL: Occipital plagiocephaly: A critical re- 14. Longaker MT, Posnick JC, Rekate HL: Cranio- occipital plagiocephaly: What is the natural his- view of the literature. J Neurosurg 89:24-30, synostosis and skull molding. J Craniofac Surg tory of the misshapen neonatal head? J Neuro- 1998 9:572-600, 1998 surg 87:667-670, 1997

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