Frontometaphyseal dysplasia: autosomal dominant or X-linked?
The clinical and radiographic manifestations in a 45-year-old male with frontometaphyseal dysplasia (FMD) are documented and depicted. Deafness and degenerative osteoarthropathy in weight-bearing joints were the main clinical problems. Widespread patchy cranial sclerosis was reminiscent of Paget's disease, while digital deformity resembled rheumatoid arthritis. On the basis of a review and tabulation of published reports, evidence emerges to support the concept of X-linked inheritance. The relationship between FMD and osteodysplasty remains a matter for speculation.
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005624:Frontal Bone / Q000002:abnormalities*; D005799:Genes, Dominant; D006312:Hearing Loss, Bilateral / Q000150:complications; D006801:Humans; D008297:Male; D008875:Middle Aged; D011859:Radiography; D012730:Sex Chromosomes; D013577:Syndrome; D014960:X Chromosome