Ritscher-Schinzel syndrome with venous sinus thrombosis- a Rare Association

• Dinkar Yadav,  
• Renu Sharma,  
• Neha Yadav,*  
• Kapil Bhalla,  
• Suchi Bhalla

Abstract

Cranio-cerebello-cardiac syndrome (3 C syndrome) or Ritscher-Schinzel syndrome is a rare disorder with very few reported cases (<50 cases) and a prevalence of 1 in 1 million live births. It is characterized by cardiac defects, central nervous system anomalies like cerebellar hypoplasia, and craniofacial anomalies. Exact etiology is difficult to understand however mutation in chromosome 8p24 coding for strumpellin protein has been found. Inheritance mode is autosomal recessive.

Keywords

3C syndrome, autosomal recessive inheritance, megalocornea, syndromic baby.