Open AccessApert Syndrome: A Rare Genetic Disorder
Author(s) -
Mahmuda Hassan,
B H Nazma Yasmeen,
Mohammad Qasim Khan,
Afsana Mukti
Publication year - 2021
Publication title -
northern international medical college journal
Language(s) - English
Resource type - Journals
eISSN - 2408-8730
pISSN - 2221-0377
DOI - 10.3329/nimcj.v11i2.54066
Subject(s) - apert syndrome , syndactyly , craniosynostosis , medicine , craniosynostoses , maxilla , dysostosis , genetic disorder , anatomy , mandible (arthropod mouthpart) , biology , surgery , pathology , congenital disease , genus , botany , disease
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