Frontometaphyseal dysplasia: symptoms and possible mode of inheritance.
Frontometaphyseal dysplasia is a rare syndrome of which only 20 cases have been described thus far. In this paper we report a 46-year-old man who showed a medium degree of manifestation of the disorder. The variable expressivity in both sexes, as derived from the careful study of reported symptoms in all known cases, was discussed. On the basis of the published pedigrees and additional information from our case, the possible mode of inheritance was debated.
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D005624:Frontal Bone / Q000000981:diagnostic imaging / Q000473:pathology*; D006312:Hearing Loss, Bilateral / Q000473:pathology; D006801:Humans; D007592:Joint Diseases / Q000473:pathology; D008297:Male; D008875:Middle Aged; D011859:Radiography; D013577:Syndrome