An asymmetric type of chondrodysplasia in an adult male. Another example of postzygotic mutation for an autosomal dominant gene?
In this paper we report a 22-year-old male with an asymmetric skeletal dysplasia, affecting almost the whole right part of the body and closely resembling pseudoachondroplastic dysplasia. This "segmental" type of chondrodysplasia is apparently another rare example of a somatic mutation of an autosomal dominant gene in man.
D000328:Adult; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*