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Craniofacial Dysotosis Apert Syndrome

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Craniofacial Dysotosis Apert Syndrome fashion across the posterior aspect of the CRANIOFACIAL DYSOTOSIS skull. Premature fusion or synostosis of this suture is rare but may be unilateral or bilat- Craniofacial dysotosis (Crouzon’s and Apert’s eral. diseases) are characterized by craniostenosis with cranial dysmorphia and facial deformities Characteristically in unilateral synosto- (hence, the term craniofacial dysotosis). sis the posterior skull is flattened on the involved side. Displacement of the ear with compensatory skull changes may be present APERT SYNDROME in severe cases. Bilateral synostosis is char- Apert syndrome or acrocephalosyndactyly acterized by extensive flattening across the syndromes are rare conditions. In 1906, Apert posterior skull and increased vertical described the skull, facial, and hand deformities growth to accommodate brain enlargement. of several patients characteristic of this syn- In mild cases the deformity can be covered drome that now bears his name. The incidence of by hair and surgical repair may not be indi- infants born with Apert syndrome is one for cated. When there is significant flattening every 100,000 to 160,000 live births. Many of the or asymmetry, we recommend release of the infants born with this syndrome show a sporadic fused sutures and posterior skull remodel- transmission, which means that a family may ing. Surgical treatment consists of extensive have a child with Apert’s when no other mem- posterior skull craniectomies with remodel- bers of the family are affected. The recurrent risk ing of both sides of the occiput and posteri- of having another child with Apert’s for two or advancement of the affected side. Rigid unaffected parents is negligible. However, if the fixation with microplates is used to hold the parent is affected there is a 50% chance of each reconstructed bones in position and main- offspring having Apert syndrome with both tain the contour until healing takes place. males and females affected equally. Occipital plagiocephaly without synos- Clinical Features: Patients with Apert syn- tosis must be distinguished from lambdoid drome have very distinct facial and extremity synostosis. Most patients referred to our features. Abnormal skull shape is due to cran- center for posterior skull deformities are iosynostosis or premature fusion of the sutures deformational or positional plagiocephaly. or soft spots. The skull usually demonstrates a In these infants, the skull becomes mis- short anteroposterior diameter (brachycephaly) shaped from repeated pressure on the same and may be excessively tall (turricephalic) or position, without the premature fusion of abnormally wide (euryprosopia). The forehead the lambdoid suture. Positional plagio- is generally always retruded, but this may not be cephaly usually improves without surgery. obvious due to the hypoplasia of the midface. Once the child’s sleep patterns change and The orbits or bony sockets which contain the he spends more time awake, the brain’s nor- eyes are very shallow causing a bulging or prop- mal growth forces help to reshape the poste- tosis. The orbits are usually rotated downward rior skull. Some centers recommend a and lateral causing a downward shape to the lat- custom fitted helmet to mold the head back eral corners of the eyes. There may be a moder- into position over a period of several ate increased distance between the eyes months. However, in cases where the poste- (hypertelorism) with muscle imbalance. rior skull deformity progresses or is severe, we recommend surgical remodeling as The middle of the face in Apert’s is both described, even though a true synostosis retruded and very hypoplastic. This causes the may not be present. central midface to have a characteristic sunken- ©1997 Erlanger Health System Tennessee Craniofacial Center 1(800) 418-3223 in appearance with the nose being Apert Syndrome thick and beaked. The upper jaw or maxilla characteristically shows a narrow arch with an open bite and dental crowding. The maxilla is significantly retruded compared to the mandible with the teeth of the lower jaw projecting in front of the upper teeth. Other possible clinical features include moderate hearing loss, speech impairment, acne, and decreased mental capability in some individuals. Intellectual potential may be difficult to evalu- ate due to communication prob- lems. Some patients with Apert Preoperative photo of infant Postoperative result after fore- syndrome may have normal intelli- with Apert syndrome. head and brow advancement. gence. All patients with Apert syn- drome demonstrate a unique hand malformation. This is characterized by a complex syndactyly or fusion of the skin, soft tissue, and bones of the fingers. Both hands are affected equally, as are the feet. This unusu- al variation of syndactyly can be used to identify Apert’s from other similar syndromes. Treatment: The treatment of patients with Apert syndrome is not uniform due to significant vari- ations in the facial anomalies, age of patients when first seen, and Preoperative Postoperative previous operations. Our primary concern of the infant born with this syndrome is: compression of the brain, breathing problems, pro- truding eyes with corneal expo- sure, and lack of facial growth. The surgical plan must be flexible and individualized to the patient. Multiple stages or operations at different ages are usually necessary. When we see these patients as infants, the first stage is treatment of the craniosynostosis with total Characteristic appearance of complex syndactyly of hand. ©1997 Erlanger Health System Tennessee Craniofacial Center 1(800) 418-3223 calvarial reshaping. We prefer to do this hypertelorism or lateral rotation of the orbits. procedure at four to six months of age. A This procedure, as described by Tessier, is called frontal-orbital advancement is per- a facial bipartition and corrects several deformi- formed which increases the intracranial ties at once. It effectively widens the maxilla and space and size of both orbits. Total skull derotates the orbits, and narrows the upper face. reshaping helps correct the tower skull In milder cases an extracranial LeFort III problem which is not addressed by advancement may be used. frontal-orbital advancement alone. A ventriculo-peritoneal shunt may be The final steps in the reconstruction are max- needed for treatment of a hydro- illary/mandibular osteotomies to complete the cephalus. This is performed prior to correction of any further dental discrepancies. skull remodeling. Occasionally a repeat These procedures are usually performed after craniotomy is needed to further reshape eruption of permanent dentition and completion the calvarial vault and advance the of growth (teen years). Additional procedures orbits. The next stage of the reconstruc- such as rhinoplasty, genioplasty and eyelid tion is midfacial advancement. We usu- surgery may be beneficial. Surgical separation of ally perform this procedure between the the fingers is usually started in the first year of ages of four to six years old prior to life and completed by three to four years of age. starting school. If necessary, an The patient with Apert syndrome represents intra/extracranial advancement of the a complex combination of multiple deformities. entire face and forehead (monobloc) can Our goal is to treat not only the function and be performed with correction of mild physical problems but the psychosocial issues as Apert Syndrome This little girl has the character- Preoperative Postoperative result after facial istic facial appearance of Apert advancement. Syndrome which is also associat- ed with complex syndactyly. ©1997 Erlanger Health System Tennessee Craniofacial Center 1(800) 418-3223 Apert Syndrome CROUZON SYNDROME This syndrome was originally described in 1912 by a French neuro- surgeon. He described four essential characteristics: exorbitism, retromaxil- lism, inframaxillism and parodoxic retrogenia. The incidence of this syn- drome appears to be approximately one in 25,000 in the general popula- tion. It is inherited as an autosomal dominant pattern with variable expression. However, approximately 25% of reported cases have no family history and represent a new mutation. Postoperative result after Four year old girl with Apert Clinical Features: Patients with syndrome. monobloc facial advancement Crouzon syndrome have very distinct with facial bipartition (medial rotation of orbits). facial features with craniofacial bone morphology similar to Apert syn- drome. Premature fusion of the bicoronal suture is the most common type of craniosynostosis with a brachycephalic or oxycephalic appearance to the skull. The extent of the craniosynostosis may be variable as well as the age at onset. There is retrusion of both the forehead and brow, with midface hypoplasia and shallow orbits with bulging eyes (proptosis). Orbital hypertelorism is less commonly seen in Crouzon’s than Apert’s syndrome. The lateral canthi may be slanted downward with some degree of upper eyelid ptosis. The proptosis is usually more prominent Preoperative Postoperative in Crouzon’s than Apert’s; however, in Apert syndrome, the other craniofa- cial deformities are more complex and severe. In addition, hydrocephalus well. We feel these individuals are best evaluated and and developmental delay are less fre- treated by a craniofacial center that utilizes the multi- quently seen in Crouzon’s than disciplinary team approach providing a coordinated, Apert’s. The nasomaxillary retrusion comprehensive, long-term treatment plan with careful may cause some degree of nasal air- monitoring of growth and development. way obstruction with mouth breath- ©1997 Erlanger Health System Tennessee Craniofacial Center 1(800) 418-3223 .
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