Clinical heterogeneity in the tricho-dento-osseous syndrome.
The tricho-dento-osseous syndrome (TDO syndrome) involves morphologic abnormalities of hair, teeth, and skeleton. Clinical findings of the TDO syndrome are excessively curly (fuzzy) hair, enamel hypoplasia, and skeletal findings of a generalized pattern of osseous sclerosis. We report an autosomal dominant syndrome with similar hair and teeth morphology, but with a skeletal dysplasia consisting of sclerosis and thickening of the calvarium with long bones that show subtle undertubulation but no sclerosis.
D000328:Adult; D003744:Dental Enamel Hypoplasia / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D008297:Male; D010026:Osteosclerosis / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D013577:Syndrome