1 publication

• Published Subscription 4 Nov 2020

  Apert Syndrome: A Critical Overview

  By Rangappa S. Ashi, David A. Kola, Geeta Badiger

  Abstract: Apert syndrome is a rare genetic disorder characterized by craniosynostosis, midfacial malformation and symmetrical syndactyly. Incidence rate in India is one in 70,000 live births. The Apert syndrome significantly increases with paternal age. Apert syndrome is caused by a mutation of FGFR2 (fibroblast growth factor receptor 2). Clinical features of Apert syndrome are tall skull and high prominent forehead, underdeveloped upper jaw, eyes look prominent and bulge out and there …

  Published in International Journal of Obstetrics, Perinatal and Neonatal Nursing · Vol. 6, Issue 2, 2020 · pp. 25–29 Read article →