Dominant chondrodysplasia punctata with neurologic symptoms.
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.
D002806:Chondrodysplasia Punctata / Q000150:complications / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D007223:Infant; D009422:Nervous System Diseases / Q000150:complications; D011859:Radiography