Original Investigations

Human Genetics

, Volume 64, Issue 2, pp 116-121

Clinical heterogeneity in the tricho-dento-osseous syndrome

  • F. QuattromaniAffiliated withDepartment of Radiology, 2nd General Hospital
  • , S. D. ShapiroAffiliated withDepartment of Periodontics and Genetics School of Dentistry, University of Texas Health Science Center
  • , R. S. YoungAffiliated withDepartment of Periodontics and Genetics School of Dentistry, University of Texas Health Science Center
  • , R. J. JorgensonAffiliated withDepartment of Periodontics and Genetics School of Dentistry, University of Texas Health Science Center
  • , J. W. ParkerAffiliated withDepartment of Pediatrics, Brooke Army Medical Center
  • , R. BlumhardtAffiliated withthe Department of Radiology, Brooke Army Medical Center
  • , R. R. ReeceAffiliated withDepartment of Radiology, William Beaumont Army Medical Center

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Summary

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.