8p Microdeletion Syndrome Presenting as Congenital Scoliosis and Facial Dysmorphism with Novel Anomalies

Abstract

8p deletion is a multisystem congenital disorder manifesting since early infancy with global developmental delay and other organ involvement. In our case the presentation was at 6 months with back deformity and developmental delay, dysmorphism and on further evaluation we found various structural anomalies. It needs a regular follow for early pick up of the associated comorbidities.