Year: 2024 | Month: May | Volume: 11 | Issue: 5 | Pages: 246-251
DOI: https://doi.org/10.52403/ijrr.20240529
Apert Syndrome (Acrocephalosyndactyly): A Rare Case Report
Dr. Saraswathi Gopal. K1, Dr. P. Mahesh Kumar2, Dr. A. Sumithra3
1Professor and Head of the department, Department of Oral medicine and Radiology, Faculty of Dentistry, Meenakshi Ammal Dental college and hospital, MAHER University, Chennai-95.
2Associate Professor, Department of Oral medicine and Radiology, Faculty of Dentistry, Meenakshi Ammal Dental college and hospital, MAHER University, Chennai-95.
3Post graduate, Department of Oral medicine and Radiology, Faculty of Dentistry, Meenakshi Ammal Dental college and hospital, MAHER University, Chennai-95.
Corresponding Author: Dr. Saraswathi Gopal. K
ABSTRACT
Apert syndrome is the rare acrocephalosyndactyly syndrome, characterized by a classic triad of craniosynostosis, syndactyly of hands and feet, and midfacial hypoplasia. It demonstrates autosomal dominant inheritance attributed to mutations in the fibroblast growth factor receptor gene. Presently described is case of a 18-year-old female patient diagnosed on physical examination with Apert syndrome based on acrocephaly, ocular hypertelorism, frontal bossing, short and broad nose, dental crowding and ectopia, maxillary hypoplasia and 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: Apert syndrome, Craniosynostosis, Syndactyly, Midfacial hypoplasia
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