Clinical heterogeneity in the tricho-dento-osseous syndrome
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- Quattromani, F., Shapiro, S.D., Young, R.S. et al. Hum Genet (1983) 64: 116. doi:10.1007/BF00327105
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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.