Ritscher-Schinzel syndrome: a case report

ABSTRACT

The 3C syndrome [cranio-cerebello-cardiac], or Ritscher-Schinzel syndrome, is rare. Only about thirty cases have been described in the literature. Transmitted on autosomic recessive mode, it associates a characteristic cranio-facial dimorphism, a cerebella vermis hypoplasia, cardiac malformations, a severe psychomotor retardation, and others anomalies such as ocular and renal. Authors report a new typical case characterized by its clinical symptoms. A four year-old child, from first degree consanguineous parents, is hospitalized for cyanosis with respiratory distress. The clinical examination finds a facial dimorph, a total hypotonia, a poor growth, a psychomotor retardation, a bilateral cryptorchidy and a camptodactyly of the 5th finger. The echocardiography shows a Fallot tetralogy in its complete form and the cerebral scanner shows Dandy-Walker lesions and hydrocephaly. The treatment was symptomatic. The Ritscher-Schinzel syndrome is a rare and serious disease. The postnatal treatment is difficult. The prognosis is often reserved. The gene identification would allow antenatal diagnosis, eventual pregnancy interruption and genetic advice