title: Syndrome of hydrocephalus, costovertebral dysplasia and Sprengel anomaly with autosomal dominant inheritance.
abstract: A malformation syndrome affecting a mother and her three daughters is reported. The patients showed various combinations of the following malformations and anomalies: spontaneously arrested communicating hydrocephalus, costovertebral dysplasia, Sprengel anomaly (undescended scapula), hypertelorism, broad and low nasal bridge, anteverted nostrils, low-set ears, high-arched palate, prominent mandibula, enamel hypoplasia and increased interspace between the 1st and 2nd toes. The occurrence of similar abnormalities in the mother and her three daughters and the variable expression of the manifestations indicate that the syndrome was inherited as an autosomal dominant trait.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D010375:Pedigree; D012272:Ribs / Q000002:abnormalities*; D012540:Scapula / Q000002:abnormalities; D012600:Scoliosis / Q000235:genetics*; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome