Apert Syndrome: A Rare Genetic Disorder
Mahmuda Hassana, B H Nazma Yasmeenb, Masuma Khanc, Afsana Muktid
- aProfessor Dept. of Paediatrics Ad-din Women’s Medical College Dhaka, Bangladesh
- bProfessor and Head Dept. of Paediatrics Northern International Medical College, Dhaka, Bangladesh
- cAssistant Professor, Dept. of Paediatrics Ad-din Women’s Medical College, Dhaka, Bangladesh
- dAssistant Professor, Dept. of pediatrics Ad-din Women’s Medical College, Dhaka, Bangladesh
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Abstract
Apert syndrome is a rare type I acrocephalosyndactyly syndrome having autosomal dominant inheritance due to mutations in the fibroblast growth factor receptors gene. New or fresh mutations are also frequent. It is characterized by dysmorphic face, craniosynostosis, severe syndactyly of the hands and feet. Apert syndrome affects the first branchial or pharyngeal arch, the precursor of the maxilla and mandible. Disturbances in the development of branchial arches during fetal period create extensive malformation in different parts of the body. Management of Apert syndrome requires a multidisciplinary approach. We, hereby, report a case of a 45-days old baby with Apert syndrome. Northern International Medical College Journal Vol.11 (2) Jan 2020: 475-477
TL;DRA case of a 45-days old baby with Apert syndrome, characterized by dysmorphic face, craniosynostosis, severe syndactyly of the hands and feet, requires a multidisciplinary approach. (Semantic Scholar)