Open AccessApert′s syndrome: Report of a rare case
Author(s) -
Parul V Bhatia,
Purv S Patel,
Yesha V Jani,
Naresh C Soni
Publication year - 2013
Publication title -
journal of oral and maxillofacial pathology/journal of oral and maxillofacial pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.455
H-Index - 25
eISSN - 1998-393X
pISSN - 0973-029X
DOI - 10.4103/0973-029x.119782
Subject(s) - apert syndrome , syndactyly , craniosynostosis , medicine , pediatrics , dermatology , genetic disorder , maxillary hypoplasia , hypoplasia , dysostosis , surgery , distraction osteogenesis , psychology , pathology , congenital disease , neuroscience , distraction , disease
Apert's syndrome (AS), a form of acrocephalosyndactyly, is a rare congenital disorder with autosomal dominant mode of transmission; characterized by craniosynostosis, midface hypoplasia, and syndactyly of hands and feet. The rarity of the syndrome and similarity of features with other craniosynostosis syndromes makes it a diagnostic dilemma. Genetic counseling 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. Here, we report a case of a 14-year-old boy with AS.