A familial syndrome of diaphyseal cortical thickening of the long bones, bowed legs, tendency to fracture and icthyosis.
The clinical and radiological features of a dominant bone disorder found in six members of the same family are described. The bone disorder was mainly characterized by endosteal cortical thickening of long tubular bones and bowing of the weight-bearing ones. The clinical symptoms were waddling gait, muscle weakness and leg pains, and there was a tendency to fractures. All affected individuals had icthyosis of slight or moderate degree.
D000328:Adult; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D002675:Child, Preschool; D002875:Chromosomes; D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging; D050723:Fractures, Bone / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007223:Infant; D008297:Male; D010375:Pedigree; D011859:Radiography; D013977:Tibia / Q000002:abnormalities* / Q000000981:diagnostic imaging