Apert syndrome: craniofacial challenges and clinical implications.

ABSTRACT

Apert syndrome is a rare acro-cephalo-syndactyly syndrome characterised by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features. It demonstrates autosomal dominant inheritance assigned to mutations in the fibroblast growth factor receptor gene, as a result of which signals are not received to produce necessary fibrous material necessary for normal cranial sutures. Deformities are generally cosmetic but can affect various functions such as hearing, visual abnormalities, swallowing, writing, etc, so a multidisciplinary approach is needed for their management.Presently described is a case of a male in his late adolescence who was medically diagnosed with Apert syndrome at birth. Physical appearance and dental examination of the patient included acrocephaly, prominent forehead, ocular hypertelorism, proptosis, short and broad nose, pseudo-prognathism, dental crowding and ectopia, maxillary hypoplasia, low hairline, webbed neck, pectus excavatum and severe bilateral syndactyly of hands and feet.