title: 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.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D003616:Dandy-Walker Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006343:Heart Septal Defects / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D010375:Pedigree; D013577:Syndrome