Apert’s Syndrome- A Rare Craniofacial Anomaly

Apert’s Syndrome- A Rare Craniofacial Anomaly

Authors

  • Gazi Sakina Rauf
  • Manu Prasad S
  • Vijayalakshmi Subramaniam

Keywords:

Craniofacial anomaly, premature synostosis, syndactyly

Abstract

Introduction: Apert’s Syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, craniofacial anomalies, and severe symmetrical syndactyly (cutaneous and bony fusion) of the hands and feet. Other craniosynostosis syndromes such as Carpenter syndrome, Crouzon disease (craniofacial dysostosis), Pfeiffer syndrome and Saethre-Chotzen syndrome have clinical features that are similar to Apert’s syndrome. Case Presentation: The case of a 10 month old infant with Apert’s syndrome is presented here. The characteristic features of Apert’s Syndrome are discussed. Conclusion: A multidisciplinary team approach comprising of neurosurgeons, craniofacial surgeons, plastic surgeons, otolaryngologists, orthodontists, orthopaedic surgeons ophthalmologists, radiologists, geneticists, paediatricians, clinical psychologists, speech and language pathologists is needed for the effective management of this condition.

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Published

2014-02-28

Issue

Section

Case Report