Clinical heterogeneity in the tricho-dento-osseous syndrome

Hum Genet. 1983;64(2):116-21. doi: 10.1007/BF00327105.

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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adult
  • Dental Enamel Hypoplasia / diagnostic imaging
  • Dental Enamel Hypoplasia / genetics*
  • Female
  • Genes, Dominant
  • Hair / abnormalities*
  • Humans
  • Male
  • Osteosclerosis / diagnostic imaging
  • Osteosclerosis / genetics*
  • Pedigree
  • Radiography
  • Syndrome