Dandy-Walker malformation and polydactyly: a possible expression of hydrolethalus syndrome

Hydrolethalus syndrome consists of hydrocephalus, polydactyly, micrognathia, midcranial malformations, visceral abnormalities and perinatal lethality. It was first described in Finland, and only a few other cases outside Scandinavia are known. We report the first Hungarian patient who displayed many signs of the syndrome but had no cleft lip and visceral abnormalities. This observation suggests the existence of oligosymptomic hydrolethalus syndrome, and suggests that Dandy-Walker malformation with polydactyly may be a manifestation of the hydrolethalus syndrome.     

The Johanson-Blizzard syndrome: report of a new case with special reference to the dentition and review of the literature

We report a new case of Johanson-Blizzard syndrome. The clinical findings with special reference to the dentition are discussed, and the literature is reviewed. The reported case underlines the heterogeneity of ectodermal dysplasias mentioned by Freire-Maia (1971).     

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, autosomal recessive syndrome characterized by craniofacial, cerebellar, and cardiac anomalies. Cardiac manifestations include ventricular septal defect, atrial septal defect, tetralogy of Fallot, double outlet right ventricle, hypoplastic left heart, aortic stenosis, pulmonic stenosis and other valvular anomalies. Central nervous system anomalies include Dandy‐Walker malformation, cerebellar vermis hypoplasia and enlargement of the cisterna magna. Craniofacial abnormalities seen are cleft palate, ocular coloboma, prominent occiput, low‐set ears, hypertelorism, down‐slanting palpebral fissures, depressed nasal bridge and micrognathia. Dandy‐Walker malformation, posterior fossa cyst, hydrocephalus and congenital heart defect are common malformations that may occur in isolation or as a part of many syndromes. Accurate genetic diagnosis and counseling require detailed analysis of the external as well as the internal anatomy and knowledge of the relative frequencies of various malformations in syndromes that may have overlapping clinical signs. We have had the opportunity recently to study four cases of the Ritscher‐Schinzel syndrome. A review of all reported cases is presented and an attempt 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 ocular coloboma, to be readily and objectively ascertainable. The other seven craniofacial traits, however, are somewhat subjective, require expert interpretation and are sometimes difficult to ascertain in a newborn or stillborn fetus. These are prominent forehead, prominent occiput, hypertelorism, down‐slanting palpebral fissures, low‐set ears, depressed nasal bridge and micrognathia. At least four of these were present in all cases that had a secure diagnosis of the Ritscher‐Schinzel syndrome. Thus, the criteria we propose to establish the diagnosis of the Ritscher‐Schinzel syndrome in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, cerebellar malformation, and cleft palate or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, hypertelorism, down‐slanting palpebral fissures, low‐set ears, depressed nasal bridge, and micrognathia. © 2001 Wiley‐Liss, Inc.