Osteopetrosis: further heterogeneity.
A form of osteopetrosis is described in two sibs which differs from the well-established autosomal dominant and recessive forms. The clinical course is mild with no evidence of clinically important encroachment upon the bone marrow or cranial nerve foramina; the skeletal radiographs show a mild generalized increase in bone density and metaphyseal modeling defects affecting primarily the distal femurs. The inheritance pattern is compatible with either an autosomal or X-linked recessive mode. The histologic features are distinct as well, and suggest that the pathogenesis of the condition differs from that of the usual forms of osteopetrosis.
D002648:Child; D002675:Child, Preschool; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010010:Osteoclasts / Q000502:physiology; D010022:Osteopetrosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D011859:Radiography