Dandy‐Walker (like) malformation, atrio‐ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: A new syndrome?

Abstract

We report on sisters with similar craniofacial anomalies, a brain malformation in the area of the posterior fossa, and a congenital heart defect. The craniofacial findings include macrocephaly, a prominent forehead and occiput, foramina parietalia, hypertelorism, downslanting palpebral fissures, a depressed nasal bridge, narrow palate, and apparently low-set ears. Patient 1 had a Dandy-Walker malformation with communicating hydrocephalus, aplasia of the posterior portion of the cerebellar vermis, and high insertion of the confluent sinus, while in patient 2, a Dandy-Walker variant was found with aplasia of the cerebellar vermis and hypoplasia of the hemispheres, large cisterna magna, high insertion of the confluent sinus, but no hydrocephalus. Both sibs were moderately mentally retarded. The older sister had a complete atrio-ventricular canal and died after unsuccessful heart operation at 3 1/2 years. The younger had a successful operation on a cleft mitral valve and septum primum defect. Chromosomes were normal. The occurrence of a distinct and similar pattern of congenital anomalies in sisters born to healthy parents points toward a "new" syndrome caused by the homozygous state of an autosomal recessive gene.

The Prognosis of Children with Hydrocephalus and Congenital Heart Disease

“…However, our series supports previous case reports, describing the poor outcome of children with DWM and correctable cardiac defects [15, 18, 19, 20, 21]. The additional risks associated with cardiac surgery have to be evaluated within the context of a potentially poor neurodevelopmental outcome in a child with this congenital malformation [3, 22, 23, 24, 25].…”

The 3C syndrome: Evolution of the phenotype and growth hormone deficiency

“…In most cases the reported birth length is within normal limits (10th centile or greater) [Digilio et al, 1995;Kosaki et al, 1997;Verloes et al, 1989;Ritscher et al, 1987;Saraiva et al, 1995]. The presence of short stature in older children with the 3C syndrome is difficult to quantify.…”

Ritscher - Schinzel Syndrome - 3C (Cranio-Cerebello-Cardiac) Syndrome: Case Report

“…Ritscher-Schinzel syndrome was first described 1987, in the case of two sisters of healthy parents who have had posterior fossa malformations, congenital heart defects and craniofacial anomalies (5). It is believed that this is an autosomal recessive hereditary disorder.…”