Apert syndrome: A case report and review of the literature

Abstract

Apert syndrome is the rare acrocephalosyndactyly syndrome type 1, characterized 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. Presently described is case of a 19-year-old female patient diagnosed on physical examination with Apert syndrome based on acrocephaly, prominent forehead, ocular hypertelorism, proptosis, short and broad nose, pseudoprognathism, dental crowding and ectopia, maxillar hypoplasia, low hairline, webbed neck, pectus excavatum, and severe, bilateral syndactyly of hands and feet. The multiple phenotypic signs of Apert syndrome make multidisciplinary team, including dentist, neurosurgeon, plastic surgeon, physiatrist, ophthalmologist, perinatalogist and geneticist, essential for successful management.

Keywords: Acrocephalosyndactyly; Apert syndrome; craniosynostosis.

FIGURE 1

(A) Frontal view of the patient’s face, and neck. (B) Anteroposterior radiogram of patient’s both hands reveal widened thumbs, cutaneous syndactyly, and flexion deformities of all fingers. (C) Anteroposterior view of both feet, complete syndactyly.

FIGURE 2

(A) Lateral radiogram of patient’s head, and neck. (B) Anteroposterior (AP) radiogram of patient’s both hands. (C) Anteroposterior (AP) radiogram of both feet of the patient.