Wednesday, April 18, 2012

Apert Syndrome

Apert Syndrome

by Fotini M. Dionisopoulos

Etiology: Apert Syndrome is a congenital, hereditary, autosomal dominant condition that originates from the first branchial arch. Mutations in a gene called fibroblast growth factor receptor 2 causes bony sutures to close too early, causing craniosynostosis.

Diagnosis: Genetic Testing is used to confirm Apert Syndrome. Physical examination, hand, foot and skull radiographs, and hearing tests are common.

Patients with Apert Syndrome have Craniofacial Anomalies* and may suffer from mental retardation, hearing deficit, respiration problems, and acne vulgaris (when a teenager). They often require multiple surgeries to correct abnormal bone growth.

Main Features: The main features of Apert Syndrome are *Craniosynostosis, *Symmetric Syndactyly of the hands and feet, and midfacial malformations. Deformities in Apert Syndrome are symmetric

Craniofacial Features Include: *Shallow Orbits/Ocular Hypertelorism, Ocular Proptosis, Divergent Strabismus, *Parrot (Beaked) Nose, Hypoplastic and Retruded Midface, Depressed Nasal Bridge, and Low Set Ears

Dental Manifestations: *Hyperdontia, *Delayed Primary Exfoliation/Delayed Permanent Eruption, *Cleft palate is highly associated (board review book says “30% cleft palate”), *V-shaped maxilla, *Severe Dental Crowding, *Anterior Open bite, *Class II Malocclusion (Board review book says “Class III with open bite”), Supernumerary Teeth, and Lateral Palatal Swellings

Dental Treatment: Interdisciplinary treatment—dental, orthodontic, oral/maxillofacial treatment is all typically necessary. There is also often the need for supplementary prophylactic dental intervention

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