Title: Apert Syndrome- A Case Report With Review
Authors: Dr M. Chandrasekhar, Dr Marisetty Charitha, Dr Ayesha Thabassum, Dr G. Chandrasekhar, Dr V. Padmaja
DOI: https://dx.doi.org/10.18535/jmscr/v7i4.159
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. The rarity of the syndrome and similarity of features with other craniosynostosis syndromes makes it a diagnostic dilemma. Genetic counselling and early intervention form an essential part of treatment. Because of the paucity of reported cases in Indian literature and typical features in oral cavity, a dentist should be competent to diagnose and form a part of the multidisciplinary management team. The present case report is about an Apert’s syndrome patient highlighting the craniofacial characteristics and oral health care measures for these patients.
Keywords: Apert’s syndrome, autosomal dominant, fibroblast growth factor, craniosynostosis.
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