A new lethal chondrodysplasia with spondylocostal dysostosis, multiple internal anomalies and Dandy-Walker cyst.
We describe here a female infant, exhibiting lethal short-limbed dwarfism. The condition superficially resembled achondrogenesis. However, unlike achondrogenesis there was an associated severe spondylocostal dysostosis and major non-skeletal anomalies, particularly a cerebellar Dandy-Walker cyst, cardiovascular and urogenital malformations. The chondroosseous morphology was nonspecific. The case is believed to be unique. It is therefore suggested that this constellation of anomalies constitutes a "new" lethal syndrome, different from the delineated chondrodysplasias.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D003616:Dandy-Walker Syndrome / Q000235:genetics*; D004413:Dysostoses / Q000235:genetics; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014463:Ultrasonography; D014564:Urogenital Abnormalities