A rare case of neonatal Apert syndrome

  • S K Nazeer Ahmed
  • T Ravi Kumar
Keywords: Acrocephalosyndactyly, apert syndrome, autosomal dominant, fibroblast growth factor


Apert syndrome is a rare Type I acrocephalosyndactyly syndrome. It is a congenital disorder characterized by premature fusion
of cranial sutures (craniosynostosis), malformation of skull, hands, face, and feet. Apert syndrome has an incidence of 1/50,000
to 1/80,000 live births. It is classified as a branchial arch syndrome, affecting the first branchial or pharyngeal arch, the precursor
of the maxilla and mandible. Disturbances in the development of branchial arches in the fetal development create lasting and
widespread effects. It is inherited as an autosomal dominant and occurs due to the gene mutations in the receptors of the fibroblast
growth factor. Management of Apert syndrome requires multidisciplinary approach. We, hereby, report a case of a 5‑h‑old neonate
with Apert syndrome.

How to Cite
Ahmed, S. K., & Kumar, T. (2017). A rare case of neonatal Apert syndrome. Indian Journal of Case Reports, 3(4), 270-272. Retrieved from http://atharvapub.net/index.php/IJCR/article/view/441
Case Report