Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: Report of four new cases and review

Ritscher-Schinzel syndrome, also known as the 3C syndrome, is a rare, autos omal recessive syndrome characterized by craniofacial, cerebellar, and card iac anomalies. Cardiac manifestations include ventricular septal defect, at rial septal defect, tetralogy of Fallot, double outlet right ventricle, hyp oplastic left heart, aortic stenosis, pulmonic stenosis and other valvular anomalies. Central nervous system anomalies include Dandy-Walker malformati on, cerebellar vermis hypoplasia and enlargement of the cisterna magna. Cra niofacial abnormalities seen are cleft palate, ocular coloboma, prominent o cciput, low-set ears, hypertelorism, down-slanting palpebral fissures, depr essed nasal bridge and micrognathia. Dandy-Walker malformation, posterior f ossa cyst, hydrocephalus and congenital heart defect are common malformatio ns that may occur in isolation or as a part of many syndromes. Accurate gen etic diagnosis and counseling require detailed analysis of the external as well as the internal anatomy and knowledge of the relative frequencies of v arious malformations in syndromes that may have overlapping clinical signs. We have had the opportunity recently to study four cases of the Ritscher-S chinzel syndrome. A review of all reported cases is presented and an attemp t made to define the minimum diagnostic criteria for the Ritscher-Schinzel syndrome. Of the nine craniofacial anomalies commonly reported as a part of the Ritscher-Schinzel syndrome, we consider two i.e., cleft palate and ocu lar coloboma, to be readily and objectively ascertainable. The other seven craniofacial traits, however, are somewhat subjective, require expert inter pretation and are sometimes difficult to ascertain in a newborn or stillbor n fetus. These are prominent forehead, prominent occiput, hypertelorism, do wn-slanting palpebral fissures, low-set ears, depressed nasal bridge and mi crognathia. At least four of these were present in all cases that had a sec ure diagnosis of the Ritscher-Schinzel syndrome. Thus, the criteria we prop ose to establish the diagnosis of the Ritscher-Schinzel syndrome in a chrom osomally normal sporadic case are the presence of cardiac malformation othe r than isolated patent ductus arteriosus, cerebellar malformation, and clef t palate or ocular coloboma or four of the following seven findings: promin ent forehead, prominent occiput, hypertelorism, down-slanting palpebral fis sures, low-set ears, depressed nasal bridge, and micrognathia. (C) 2001 Wil ey-Liss, Inc.