A case report of Apert syndrome

Abstract

Link of Video Abstract: https://youtu.be/ahjJloTwZQE   Introduction: Apert syndrome (AS) is a rare type 1 acrocephalosyndactyly syndrome, characterized by craniosynostosis, severe syndactyly of the hands and feet, and dysmorphic facial features. It exhibits autosomal dominant inheritance assigned to mutations in the fibroblast growth factor receptor gene. Case Illustration: We presently describe the case of a 14 years old male patient with acrocephaly, prominent forehead, ocular hypertelorism, proptosis, short and broad nose, pseudoprognathism, crowding of teeth and ectopia, maxillary hypoplasia, low hairline, webbed neck, pectus excavatum, and severe bilateral syndactyly of hands and feet. The examination revealed apical cranium, occipital flattening, enlargement and hypoplasia of the premaxillary opening, crowding, ectopic teeth, tapering of the mandibular apex, and pseudognathia. Conclusion: We reported a 14 years old male patient with AS with craniosynostosis and acrocephalosyndactyly. The characteristics of clinical manifestation of AS should be aware by physicians to be able to diagnose the disease.