Ritscher-Schinzel syndrome with venous sinus thrombosis: A rare association

Ritscher-Schinzel syndrome or Cranio-cerebello-cardiac syndrome (3C syndrome) is a rare disorder with autosomal recessive inheritance. Very few reported cases till now (<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 8q24 coding for strumpellin protein has been found. Index case presented with complaints of craniofacial abnormalities with abnormal cardiovascular examination. Typical clinical presentation, Echocardiography and Neuroimaging support the diagnosis of this rare syndrome.