Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism?
Striation of the metaphyseal regions of the long bones, a characteristic feature of the focal dermal hypoplasia syndrome, may be explained by functional X chromosome mosaicism. The following arguments are in favour of this hypothesis: (I) The striation of bones coincides with the zones of osteogenesis. (2) The skin lesions are distributed in a linear pattern as well. (3) The syndrome is probably inherited as an X-linked dominant trait. Thus, the linear pattern of both skin and bone lesions could be due to random X inactivation.
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D009030:Mosaicism; D011859:Radiography; D012730:Sex Chromosomes; D012871:Skin Diseases / Q000000981:diagnostic imaging / Q000235:genetics*