Ritscher-Schinzel cardio-cranio-cerebellar (3C) syndrome: Report of three new cases

Abstract

Ritscher-Schinzel syndrome is also known as the 3C syndrome because it involves principally the cardiac, cerebellar and cranio-facial structures. However, a review of the 29 published cases shows considerable variability in its clinical manifestations. As many as half of all cases may involve only two of the three systems. Here we wish to report on three new cases, two of which were siblings diagnosed prenatally.Cases 1 and 2. Baby R. was identified when autopsy studies following delivery at 31 weeks because of intrauterine fetal demise confirmed prenatally detected Dandy-Walker malformation, large atrial septal defect, cleft palate and hydronephrosis. During the subsequent pregnancy of this non-consanguineous, healthy Caucasian couple with a negative family history of malformations the fetus was found to have Dandy-Walker cyst, hypoplastic left heart, cleft palate and bilateral renal hypoplasia. Both fetuses had normal male karyotypes. Our third case is black male infant born at 38 weeks of gestational age to a 30-year-old primipara mother with no family history of birth defects or consanguinity. The infant weighed 1970 gm. at birth and was noted to have cleft palate, micrognathia, low set ears, tricuspid atresia with hypoplastic right ventricle, Dandy-Walker malformation and hydrocephalus. Other noted anomalies were a single umbilical artery, hypospadias, hemivertebrae and rib anomalies. Chromosomes were normal. The infant died following withdrawal of life support on the eighth day of life and no autopsy was performed. All three cases were seen during a one year period suggesting that the syndrome may be more common than is generally recognized.We will present a detailed review of the 29 published cases and differential diagnosis of the 3C syndrome.