title: Dominant chondrodysplasia punctata with neurologic symptoms.
abstract: There are few descriptions of major neurologic dysfunctions in either the recessive or the dominant form of chondrodysplasia punctata. In the dominant trait, often called Conradi-Hünermann disease, a normal life expectancy with normal neurologic development is the usual course for those who survive the first few weeks of life. We studied an affected infant with a severe spinal cord abnormality that was present at birth and has not been reported in either recessive or dominant chondrodysplasia punctata.
mesh_terms: D002806:Chondrodysplasia Punctata / Q000150:complications / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D007223:Infant; D009422:Nervous System Diseases / Q000150:complications; D011859:Radiography