Hereditary Apert Syndrome: Case Report and Literature Review

Apert syndrome is a rare genetic disorder caused by a mutation in the FGFR2 gene, and which is part of a suite of syndromes characterized by craniosynostosis or premature fusion of the cranial coronal sutures. Inheritance is autosomal dominant, although the syndrome generally occurs as a result of a de novo mutation. Patients with Apert syndrome have acrocephaly frequently associated with central nervous system disorders and symmetric syndactyly in their hands and feet. A suspected diagnosis is often based on second trimester ultrasonographic images, although the definitive diagnosis requires genetic testing to identify the mutation. We discuss a case of hereditary Apert syndrome, its etiology, clinical characteristics and modes of intrauterine diagnosis.