Keywords
Apert Syndrome; Newborn infant; Craniosynostosis
Abstract
Apert syndrome belongs to acrocephalosyndactyly group of disorders, and it is a autosomal dominantly inherited rare disorder characterized by craniosynostosis, midline facial hypoplasia, severe symmetrical cutaneous syndactyly of the hands and the feet, as well as central nervous system, heart and kidney abnormalities. It is caused by a mutation of the fibroblast growth factor gene located in the 10th chromosome (10q25-26). Clinical presentation of the disease was first described in 1906 by Apert, and it is an easily recognizable disorder with particularly typical physical examination findings. In the light of the current literature, this article reviews and presents a case of Apert syndrome diagnosed based on physical examination findings and chromosomal analysis.
Citation
Fedakâr A and Sakc Z. Apert Syndrome: Case Presentation. SM J Pediatr Surg. 2016; 2(6): 1034.