Congenital Cranial Anomalies and Cleft Palate Craniofacial Surgery

Total Page：16

File Type：pdf, Size：1020Kb

Congenital cranial anomalies and cleft palate Craniofacial surgery Paul J.Tessier Craniofacial team • anesthesiologist • audiologist • genetics • neurosurgeon • ophthalmologist • oral surgeon • orthodontist • otolaryngologist • pediatrician • plastic surgeon • radiologist • social worker • speech pathologist Craniofacial anomalies Cleft lip and Craniosynostosis palate Craniofacial clefts Tessier’s classification Cleft lip and palate • multifactorial etiology • 15% clefts cases are syndromic • environmental factors known : phenytoin, retinoic acid, folic acid antagonists; maternal smoking • cleft lip or cleft lip-and palate with male predominance • isolated cleft palate with female predominance Cleft lip and palate • Incomplete/complete • Unilateral/bilateral • Boys are more often affected than girls • Left-sided clefts are more common Cleft lip and palate • the most frequent congenital facial defect • main point of classification ➡ incisive foramen Cleft lip and palate Kernahan-Stark classification • Primary palate – clefts of the lips and dentoalveolar defects anterior to the incisive foramen • Secondary palate – clefts posterior to the incisive foramen Cleft lip and palate Unilateral lip cleft Cleft lip and palate Unilateral lip cleft Cleft lip and palate Bilateral lip cleft Cleft lip and palate Bilateral cleft lip and palate Surgical treatment • cleft lip is always repaired at 3-4mo • cleft palate is usually repaired between 9 to 15 months of age • cleft alveolus is usually repaired with autogenous bone graft between 5 and 8 years of age Cleft lip repair Cleft palate repair Craniofacial clefts Craniofacial clefts Treacher-Collins syndrome „mandibulofacial dysostosis” - 1:10000 live births - inheritance: AD Treacher-Collins syndrome Treacher-Collins syndrome Treacher-Collins syndrome Surgical treatment: • severity of the malformation dictates the timing of surgical intervention • correction of mandibular retrusion • external ear construction with costochondral grafts (6yo) • correction of zygomas and orbits • local flaps for antimongoloid slant and eyelid colobomas Treacher-Collins syndrome Choanal atresia • unilateral/bilateral • bony/membranous • respiratory distress, difficulty feeding, failure to thrive • catheter can’t be passed through the nose • CT scan TRANSPALATAL REPAIR Ankyloglossia Craniosynostosis • prematurely cranial sutures closure • the resulting distortion of the skull depends on the suture/sutures that are closed • nonsyndromic / syndromic • sagittal suture – most commonly fused Craniosynostosis Scaphocephaly (boat shape) Scaphocephaly (boat shape) Plagiocephaly Plagiocephaly Brachycephaly Brachycephaly Trigonocephaly Trigonocephaly Acrocephaly Acrocephaly Treatment • early operative intervention is advised • most centers favor the period of 3 to 6 months of age (before 1yo) • releasing affected suture + repositioning of deformed bones Crouzon syndrome Most common syndromic craniosynostosis • bilateral coronal synostosis (every suture can be involved) • exorbitism (hypoplastic orbit) • midfacial retrusion with collapsed maxilla • pseudomandibular prognathism Before and after Apert syndrome „acrocephalosyndactyly”.

Copy Link

Recommended publications

New Guidelines Review Evidence on PT, Helmets for Positional Plagiocephaly by Sandi K
Neurologic Disorders, Neurological Surgery, News Articles New guidelines review evidence on PT, helmets for positional plagiocephaly by Sandi K. Lam M.D., M.B.A., FACS; Thomas G. Luerssen M.D., FACS, FAAP Positional plagiocephaly is a common condition encountered by pediatricians and referred to pediatric subspecialty physicians such as neurosurgeons and plastic surgeons. About one in four U.S. infants has some degree of positional plagiocephaly. The incidence has increased since the Academy initiated the Back to Sleep campaign in 1994 to prevent sudden infant death syndrome. Due to practice variation in diagnosis and treatment paradigms for this common condition, the Joint Section on Pediatric Neurosurgery of the American Association of Neurological Surgeons and the Congress of Neurological Surgeons (CNS) sought to develop evidence-based management guidelines. A multidisciplinary task force conducted a systematic review of the literature from 1966 to October 2014 on pediatric plagiocephaly. Nearly 400 abstracts were reviewed yielding 110 articles for full review; 60 were deemed relevant. The task force made 10 recommendations pertaining to imaging diagnosis, repositioning, physical therapy and helmet orthoses. The guidelines are published in CNS' journal Neurosurgery and have been endorsed by the Academy. They are available at http://bit.ly/2d7NzS1. Definition of positional plagiocephaly In the guidelines, the term positional plagiocephaly encompasses both positional occipital plagiocephaly (unilateral flattening of parieto-occipital region, compensatory anterior shift of the ipsilateral ear, bulging of the ipsilateral forehead) and positional brachycephaly (symmetric flattening of the occiput, foreshortened anterior- posterior dimension of the skull, compensatory biparietal widening) and the combination of both of these deformities.
[Show full text]
Second Family with the Bostontype Craniosynostosis Syndrome: Novel Mutation and Expansion of the Clinical Spectrum
CLINICAL REPORT Second Family With the Boston-Type Craniosynostosis Syndrome: Novel Mutation and Expansion of the Clinical Spectrum Alexander Janssen,1 Mohammad J. Hosen,2 Philippe Jeannin,3 Paul J. Coucke,2 Anne De Paepe,2 and Olivier M. Vanakker2* 1Department of Neurosurgery, Ghent University Hospital, Ghent, Belgium 2Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium 3Department of Pediatrics, Jan Palﬁjn Hospital, Ghent, Belgium Manuscript Received: 11 January 2013; Manuscript Accepted: 3 May 2013 Craniosynostosis, caused by early fusion of one or more cranial sutures, can affect the coronal or lambdoid sutures, or include How to Cite this Article: premature fusion of the sagittal (scaphocephaly) or metopic Janssen A, Hosen MJ, Jeannin P, Coucke suture (trigonocephaly). Often occurring as isolated ﬁnding, PJ, De Paepe A, Vanakker OM. 2013. their co-existence in a craniosynostosis syndrome is infrequent. Second family with the Boston-type We describe a four-generation family with variable expression of craniosynostosis syndrome: Novel mutation a craniosynostosis phenotype with scaphocephaly and a partic- and expansion of the clinical spectrum. ularly severe trigonocephaly. Molecular analysis revealed a mis- sense mutation in the MSX2—associated with the Boston-type Am J Med Genet Part A 161A:2352–2357. craniosynostosis syndrome—affecting the same amino-acid res- idue as in the original Boston family. Besides unique features such as the cranial sutures involved, minor limb abnormalities isolated sagittal synostosis, accounting for more than half of all and incomplete penetrance, our patients share with the original reported cases. Premature fusion of the sagittal suture results in family autosomal dominant inheritance and the presence of decreased width and inverse elongation of the anteroposterior axis multiple endocranial erosions on CT imaging.
[Show full text]
Dysmorphology and Dysfunction in the Brain and Calvarial Vault of Nonsyndromic Craniosynostosis
Yale University EliScholar – A Digital Platform for Scholarly Publishing at Yale Yale Medicine Thesis Digital Library School of Medicine January 2013 Dysmorphology And Dysfunction In The rB ain And Calvarial Vault Of Nonsyndromic Craniosynostosis Joel Stanley Beckett Yale School of Medicine, [email protected] Follow this and additional works at: http://elischolar.library.yale.edu/ymtdl Recommended Citation Beckett, Joel Stanley, "Dysmorphology And Dysfunction In The rB ain And Calvarial Vault Of Nonsyndromic Craniosynostosis" (2013). Yale Medicine Thesis Digital Library. 1781. http://elischolar.library.yale.edu/ymtdl/1781 This Open Access Thesis is brought to you for free and open access by the School of Medicine at EliScholar – A Digital Platform for Scholarly Publishing at Yale. It has been accepted for inclusion in Yale Medicine Thesis Digital Library by an authorized administrator of EliScholar – A Digital Platform for Scholarly Publishing at Yale. For more information, please contact [email protected]. Dysmorphology and Dysfunction in the Brain and Calvarial Vault of Nonsyndromic Craniosynostosis Yale University School of Medicine in Partial Fulfillment of the Requirements for the Degree of Doctor of Medicine by Joel Stanley Beckett 2013 Abstract Craniosynostosis is a premature pathologic fusion of one or more sutures in the calvarial vault. The six calvarial sutures are growth sites between adjacent intramembranous bones, which allow for flexibility during passage through the birth canal and accommodation for the growing brain. (1) Premature fusion results in obvious cranial morphologic abnormality and can be associated with elevated intracranial pressure, visual dysfunction, mental retardation and various forms of subtler learning disability. (2) A category of disease called isolated nonsyndromic craniosynostosis (NSC) represents nearly 85% of cases.
[Show full text]
Endoscopy-Assisted Early Correction of Single-Suture Metopic Craniosynostosis: a 19-Year Experience
CLINICAL ARTICLE J Neurosurg Pediatr 23:61–74, 2019 Endoscopy-assisted early correction of single-suture metopic craniosynostosis: a 19-year experience David F. Jimenez, MD,1 Michael J. McGinity, MD,1 and Constance M. Barone, MD2 1Department of Neurosurgery, University of Texas Health San Antonio; and 2Cosmetic Surgery Center, San Antonio, Texas OBJECTIVE The objective of this study was to present the authors’ 19-year experience treating metopic craniosynos- tosis by using an endoscopy-assisted technique and postoperative cranial orthotic therapy. The authors also aimed to provide a comprehensive, comparative statistical analysis of minimally invasive surgery (MIS) versus open surgery in reports previously published in the literature (through 2014) regarding only patients with metopic synostosis. METHODS A total of 141 patients with single-suture metopic nonsyndromic craniosynostosis sutures were treated between 1998 and 2017 by endoscopically resecting the synostosed bone followed by postoperative custom cranial orthosis use. All data used in the case series were collected prospectively and stored in a secure database. A compre- hensive literature review was performed that included all previous case series reporting common surgical performance measures. A statistical comparison of traditional open methods versus MIS techniques was performed with regard to age, length of hospital stay (LOS), surgical time, estimated blood loss (EBL), and transfusion rate. RESULTS The mean age at the time of surgery in the current series was 4.1 months. The mean EBL was 33 ml (range 5–250 ml). One patient underwent an intraoperative blood transfusion and 5 underwent postoperative blood transfu- sion for a total transfusion rate of 4.3%.
[Show full text]
West Texas Craniofacial Center of Excellence
TEAM MEMBERS Tammy Camp, M.D. PAID PERMIT #68 LUBBOCK, TX LUBBOCK, U.S. POSTAGE POSTAGE U.S. NONPROFIT ORG Pediatrician, Texas Tech Physicians Desiree Pendergrass, M.D. Pediatrician Dr. Camp Dr. Camp and Dr. Pendergrass will screen infants and children for cardiac, renal, feeding or airway problems often associated with syndromic craniofacial deformities. Alan Eisenbaum, M.D. Pediatric ophthalmologist, Dr. Pendergrass Texas Tech Physicians Curt Cockings, M.D. Pediatric ophthalmologist Dr. Eisenbaum and Dr. Cockings will screen infants and children with abnormal head shapes for any evidence of optic disc swelling of papilledema Dr. Eisenbaum suggestive of elevated intracranial pressure. They will also screen for any visual loss secondary to optic neuropathy, amblyopia or exposure keratopathy as a results of small orbital volume in syndromic synostoses. APPOINTMENTS Dr. Demke sees patients at the Texas Tech Physicians Medical Pavilion in the Surgery Clinic. His clinic days are Tuesday and Thursday, 8 a.m. – 5 p.m. Please call (806)743-2373 for a referral. SURGERY Dr. Nagy sees patients at Covenant Women’s and Children’s Hospital on Tuesdays and Wednesdays 9am – 5pm weekly. For this clinic location, Lubbock, 79430 Texas please call (806) 743-7700 for a referral. He also sees patients at Texas Department Surgery of Tech Physicians Medical Pavilion, 3rd floor, on Mondays from 9am – 5pm 8312 – MS Street 4th 3601 weekly. For this clinic location, please call (806) 743-7335 for a referral. If a patient needs to see both Dr. Demke and Dr. Nagy, arrangements SURGERY will be made to see the patient on the same day.
[Show full text]
Blueprint Genetics Craniosynostosis Panel
Craniosynostosis Panel Test code: MA2901 Is a 38 gene panel that includes assessment of non-coding variants. Is ideal for patients with craniosynostosis. About Craniosynostosis Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape. It may result from a primary defect of ossification (primary craniosynostosis) or, more commonly, from a failure of brain growth (secondary craniosynostosis). Premature closure of the sutures (fibrous joints) causes the pressure inside of the head to increase and the skull or facial bones to change from a normal, symmetrical appearance resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome with a variety of inheritance patterns and reccurrence risks. Craniosynostosis occurs in 1/2,200 live births. Availability 4 weeks Gene Set Description Genes in the Craniosynostosis Panel and their clinical significance Gene Associated phenotypes Inheritance ClinVar HGMD ALPL Odontohypophosphatasia, Hypophosphatasia perinatal lethal, AD/AR 78 291 infantile, juvenile and adult forms ALX3 Frontonasal dysplasia type 1 AR 8 8 ALX4 Frontonasal dysplasia type 2, Parietal foramina AD/AR 15 24 BMP4 Microphthalmia, syndromic, Orofacial cleft AD 8 39 CDC45 Meier-Gorlin syndrome 7 AR 10 19 EDNRB Hirschsprung disease, ABCD syndrome, Waardenburg syndrome AD/AR 12 66 EFNB1 Craniofrontonasal dysplasia XL 28 116 ERF Craniosynostosis 4 AD 17 16 ESCO2 SC phocomelia syndrome, Roberts syndrome
[Show full text]
MECHANISMS in ENDOCRINOLOGY: Novel Genetic Causes of Short Stature
J M Wit and others Genetics of short stature 174:4 R145–R173 Review MECHANISMS IN ENDOCRINOLOGY Novel genetic causes of short stature 1 1 2 2 Jan M Wit , Wilma Oostdijk , Monique Losekoot , Hermine A van Duyvenvoorde , Correspondence Claudia A L Ruivenkamp2 and Sarina G Kant2 should be addressed to J M Wit Departments of 1Paediatrics and 2Clinical Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, Email The Netherlands [email protected] Abstract The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in hormone signalling, paracrine factors, matrix molecules, intracellular pathways, and fundamental cellular processes, followed by chromosomal aberrations including copy number variants (CNVs) and imprinting disorders associated with short stature. Many novel causes of GH deficiency (GHD) as part of combined pituitary hormone deficiency have been uncovered. The most frequent genetic causes of isolated GHD are GH1 and GHRHR defects, but several novel causes have recently been found, such as GHSR, RNPC3, and IFT172 mutations. Besides well-defined causes of GH insensitivity (GHR, STAT5B, IGFALS, IGF1 defects), disorders of NFkB signalling, STAT3 and IGF2 have recently been discovered. Heterozygous IGF1R defects are a relatively frequent cause of prenatal and postnatal growth retardation. TRHA mutations cause a syndromic form of short stature with elevated T3/T4 ratio. Disorders of signalling of various paracrine factors (FGFs, BMPs, WNTs, PTHrP/IHH, and CNP/NPR2) or genetic defects affecting cartilage extracellular matrix usually cause disproportionate short stature.
[Show full text]
Prenatal Ultrasonography of Craniofacial Abnormalities
Prenatal ultrasonography of craniofacial abnormalities Annisa Shui Lam Mak, Kwok Yin Leung Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong SAR, China REVIEW ARTICLE https://doi.org/10.14366/usg.18031 pISSN: 2288-5919 • eISSN: 2288-5943 Ultrasonography 2019;38:13-24 Craniofacial abnormalities are common. It is important to examine the fetal face and skull during prenatal ultrasound examinations because abnormalities of these structures may indicate the presence of other, more subtle anomalies, syndromes, chromosomal abnormalities, or even rarer conditions, such as infections or metabolic disorders. The prenatal diagnosis of craniofacial abnormalities remains difficult, especially in the first trimester. A systematic approach to the fetal Received: May 29, 2018 skull and face can increase the detection rate. When an abnormality is found, it is important Revised: June 30, 2018 to perform a detailed scan to determine its severity and search for additional abnormalities. Accepted: July 3, 2018 Correspondence to: The use of 3-/4-dimensional ultrasound may be useful in the assessment of cleft palate and Kwok Yin Leung, MBBS, MD, FRCOG, craniosynostosis. Fetal magnetic resonance imaging can facilitate the evaluation of the palate, Cert HKCOG (MFM), Department of micrognathia, cranial sutures, brain, and other fetal structures. Invasive prenatal diagnostic Obstetrics and Gynaecology, Queen Elizabeth Hospital, Gascoigne Road, techniques are indicated to exclude chromosomal abnormalities. Molecular analysis for some Kowloon, Hong Kong SAR, China syndromes is feasible if the family history is suggestive. Tel. +852-3506 6398 Fax. +852-2384 5834 E-mail: [email protected] Keywords: Craniofacial; Prenatal; Ultrasound; Three-dimensional ultrasonography; Fetal structural abnormalities This is an Open Access article distributed under the Introduction terms of the Creative Commons Attribution Non- Commercial License (http://creativecommons.org/ licenses/by-nc/3.0/) which permits unrestricted non- Craniofacial abnormalities are common.
[Show full text]
MR Imaging of Fetal Head and Neck Anomalies
Neuroimag Clin N Am 14 (2004) 273–291 MR imaging of fetal head and neck anomalies Caroline D. Robson, MB, ChBa,b,*, Carol E. Barnewolt, MDa,c aDepartment of Radiology, Children’s Hospital Boston, 300 Longwood Avenue, Harvard Medical School, Boston, MA 02115, USA bMagnetic Resonance Imaging, Advanced Fetal Care Center, Children’s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA cFetal Imaging, Advanced Fetal Care Center, Children’s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA Fetal dysmorphism can occur as a result of var- primarily used for fetal MR imaging. When the fetal ious processes that include malformation (anoma- face is imaged, the sagittal view permits assessment lous formation of tissue), deformation (unusual of the frontal and nasal bones, hard palate, tongue, forces on normal tissue), disruption (breakdown of and mandible. Abnormalities include abnormal promi- normal tissue), and dysplasia (abnormal organiza- nence of the frontal bone (frontal bossing) and lack of tion of tissue). the usual frontal prominence. Abnormal nasal mor- An approach to fetal diagnosis and counseling of phology includes variations in the size and shape of the parents incorporates a detailed assessment of fam- the nose. Macroglossia and micrognathia are also best ily history, maternal health, and serum screening, re- diagnosed on sagittal images. sults of amniotic fluid analysis for karyotype and Coronal images are useful for evaluating the in- other parameters, and thorough imaging of the fetus tegrity of the fetal lips and palate and provide as- with sonography and sometimes fetal MR imaging. sessment of the eyes, nose, and ears.
[Show full text]
Occipital Plagiocephaly: a Critical Review of the Literature
Occipital plagiocephaly: a critical review of the literature Harold L. Rekate, M.D. Pediatric Neurosurgery, Barrow Neurologic Institute, Phoenix, Arizona The objective of this review was to determine what information is available on the incidence, pathophysiology, late complications, and treatment paradigms for occipital plagiocephaly based on a critical review of the literature obtained from recognized databases in peer-reviewed scientific publications. The content of this article is based on a critical review of the literature, and when discussing treatment options, classification of those articles with respect to the strength of the recommendations they contain. Using standard computerized search techniques, databases containing medical literature were queried for key words related to occipital plagiocephaly beginning in 1966. Key words used for this search were: lambdoid, craniosynostosis, cranial sutures, facial asymmetry, torticollis, and plagiocephaly. Titles of all articles were scanned for relevance. Copies of all potentially relevant articles published in the English language were obtained and received at least a cursory review. Several articles not captured by these methods were found to be important when referenced in the articles obtained. Articles discussing treatment were divided into Class I, Class II, and Class III data for the purpose of deciding on their applicability to the development of a potential consensus for the treatment of this controversial condition. Using the aforementioned key words, there were 4308 articles identified with potential relevance: scanning by title excluded all but 89. Of the 89, those with on-line abstracts were scanned, the remainder were obtained via interlibrary loan when needed for scanning of the article itself. The actual incidence of occipital plagiocephaly is unknown and there are no population-based studies of its incidence or prevalence.
[Show full text]
Cell Lines Or Lymphocytes Collected from Blood Via Trizol HDAC4 in Each of These Cases Revealed De Novo Mutations
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector ARTICLE Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems Stephen R. Williams,1 Micheala A. Aldred,3 Vazken M. Der Kaloustian,4,6 Fahed Halal,5 Gordon Gowans,7 D. Ross McLeod,8 Sara Zondag,9 Helga V. Toriello,9 R. Ellen Magenis,10 and Sarah H. Elsea1,2,* Brachydactyly mental retardation syndrome (BDMR) is associated with a deletion involving chromosome 2q37. BDMR presents with a range of features, including intellectual disabilities, developmental delays, behavioral abnormalities, sleep disturbance, craniofacial and skeletal abnormalities (including brachydactyly type E), and autism spectrum disorder. To date, only large deletions of 2q37 have been reported, making delineation of a critical region and subsequent identification of candidate genes difficult. We present clinical and molecular analysis of six individuals with overlapping deletions involving 2q37.3 that refine the critical region, reducing the candi- date genes from >20 to a single gene, histone deacetylase 4 (HDAC4). Driven by the distinct hand and foot anomalies and similar cognitive features, we identified other cases with clinical findings consistent with BDMR but without a 2q37 deletion, and sequencing of HDAC4 identified de novo mutations, including one intragenic deletion probably disrupting normal splicing and one intragenic insertion that results in a frameshift and premature stop codon. HDAC4 is a histone deacetylase that regulates genes important in bone, muscle, À/À neurological, and cardiac development. Reportedly, Hdac4 mice have severe bone malformations resulting from premature ossifica- tion of developing bones.
[Show full text]
Occipital Plagiocephaly: a Critical Review of the Literature
Occipital plagiocephaly: a critical review of the literature Harold L. Rekate, M.D. Pediatric Neurosurgery, Barrow Neurologic Institute, Phoenix, Arizona The objective of this review was to determine what information is available on the incidence, pathophysiology, late complications, and treatment paradigms for occipital plagiocephaly based on a critical review of the literature obtained from recognized databases in peer-reviewed scientific publications. The content of this article is based on a critical review of the literature, and when discussing treatment options, classification of those articles with respect to the strength of the recommendations they contain. Using standard computerized search techniques, databases containing medical literature were queried for key words related to occipital plagiocephaly beginning in 1966. Key words used for this search were: lambdoid, craniosynostosis, cranial sutures, facial asymmetry, torticollis, and plagiocephaly. Titles of all articles were scanned for relevance. Copies of all potentially relevant articles published in the English language were obtained and received at least a cursory review. Several articles not captured by these methods were found to be important when referenced in the articles obtained. Articles discussing treatment were divided into Class I, Class II, and Class III data for the purpose of deciding on their applicability to the development of a potential consensus for the treatment of this controversial condition. Using the aforementioned key words, there were 4308 articles identified with potential relevance: scanning by title excluded all but 89. Of the 89, those with on-line abstracts were scanned, the remainder were obtained via interlibrary loan when needed for scanning of the article itself. The actual incidence of occipital plagiocephaly is unknown and there are no population-based studies of its incidence or prevalence.
[Show full text]