Clinical heterogeneity in the tricho-dento-osseous syndrome

F. Quattromani, S. D. Shapiro, R. S. Young, R. J. Jorgenson, J. W. Parker, R. Blumhardt, R. R. Reece

Research output: Contribution to journalArticlepeer-review

26 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)116-121
Number of pages6
JournalHuman Genetics
Volume64
Issue number2
DOIs
StatePublished - Aug 1 1983

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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