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… (More)