Chapter
3:
Apert
Syndrome
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Chapter
3: |
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Craniosynostosis
Apert Syndrome
Craniosynostosis
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Craniofacial dysotosis (Crouzon's and Apert's diseases) are
characterized by craniostenosis with cranial dysmorphia and facial
deformities (hence, the term craniofacial dysotosis).
APERT SYNDROME Apert syndrome or acrocephalosyndactyly syndromes are rare conditions. In 1906, Apert described the skull, facial, and hand deformities of several patients characteristic of this syndrome that now bears his name. The incidence of infants born with Apert syndrome is one for every 100,000 to 160,000 live births. Many of the infants born with this syndrome show a sporadic transmission, which means that a family may have a child with Apert's when no other members of the family are affected. The recurrent risk of having another child with Apert's for two unaffected parents is negligible. However, if the parent is affected there is a 50% chance of each offspring having Apert syndrome with both males and females affected equally. Clinical Features: Patients with Apert syndrome have very distinct facial and extremity features. Abnormal skull shape is due to craniosynostosis or premature fusion of the sutures or soft spots. The skull usually demonstrates a short anteroposterior diameter (brachycephaly) and may be excessively tall (turricephalic) or abnormally wide (euryprosopia). The forehead is generally always retruded, but this may not be obvious due to the hypoplasia of the midface. The orbits or bony sockets which contain the eyes are very shallow causing a bulging or proptosis. The orbits are usually rotated downward and lateral causing a downward shape to the lateral corners of the eyes. There may be a moderate increased distance between the eyes (hypertelorism) with muscle imbalance. The middle of the face in Apert's is both retruded and very hypoplastic. This causes the central midface to have a characteristic sunken-in appearance with the nose being 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 evaluate due to communication problems. Some patients with Apert syndrome may have normal intelligence. All patients with Apert syndrome 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 unusual 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 variations in the facial anomalies, age of patients when first seen, and previous operations. Our primary concern of the infant born with this syndrome is: compression of the brain, breathing problems, protruding eyes with corneal exposure, 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 calvarial reshaping. We prefer to do this procedure at four to six months of age. A frontal-orbital advancement is performed which increases the intracranial space and size of both orbits. Total skull reshaping helps correct the tower skull problem which is not addressed by frontal-orbital advancement alone. A ventriculo-peritoneal shunt may be needed for treatment of a hydrocephalus. This is performed prior to skull remodeling. Occasionally a repeat craniotomy is needed to further reshape the calvarial vault and advance the orbits. The next stage of the reconstruction is midfacial advancement. We usually perform this procedure between the ages of four to six years old prior to starting school. If necessary, an intra/extracranial advancement of the entire face and forehead (monobloc) can be performed with correction of mild hypertelorism or lateral rotation of the orbits. This procedure, as described by Tessier, is called a facial bipartition and corrects several deformities at once. It effectively widens the maxilla and derotates the orbits, and narrows the upper face. In milder cases an extracranial LeFort III advancement may be used. The final steps in the reconstruction are maxillary/mandibular osteotomies to complete the correction of any further dental discrepancies. These procedures are usually performed after eruption of permanent dentition and completion of growth (teen years). Additional procedures such as rhinoplasty, genioplasty and eyelid surgery may be beneficial. Surgical separation of the fingers is usually started in the first year of life and completed by three to four years of age. The patient with Apert syndrome represents a complex combination of multiple deformities. Our goal is to treat not only the function and physical problems but the psychosocial issues as well. We feel these individuals are best evaluated and treated by a craniofacial center that utilizes the multidisciplinary team approach providing a coordinated, comprehensive, long-term treatment plan with careful monitoring of growth and development.
The Tennessee Craniofacial
Center, part of the Erlanger Health System, is located in Chattanooga,
Tennessee. The Center, led Larry A. Sargent, M.D., specializes in the
evaluation and treatment of patients of all ages with craniofacial deformities.
Location:
975 East Third Street. Chattanooga, Tennessee 37403
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