Apert syndrome with septum pellucidum agenesis

Tiwari A, Agrawal A, Pratap A, Lakshmi R, Narad R
Correspondence: Dr Amit Agrawal, dramitagrawal@gmail.com

ABSTRACT
Apert syndrome is characterised by craniosynostosis, associated with maxillary hypoplasia, symmetrical syndactyly of the hands and feet, and other systemic malformations including mental retardation. Apert syndrome and septo-optic dysplasia is rarely described. We describe the classical clinical and radiological findings of this syndrome in a 20-year-old woman. Though early surgical intervention is imperative for optimal outcome, in developing countries, it may not be possible to intervene at the right time due to financial constraints.

Keywords: Apert syndrome, craniosynostosis, septum pellucidum agenesis, syndactyly
Singapore Med J 2007; 48(2): e62–e65