Variable presentation of Rothmund-Thomson syndrome Academic Article Article uri icon


MeSH Major

  • Genetic Testing
  • Prenatal Diagnosis


  • The recent finding that a subset of patients with Rothmund-Thomson syndrome (RTS) have mutations of a helicase gene has prompted reexamination of the phenotypes of individuals diagnosed with this disorder. We report on two patients with variable presentations of RTS. Initial presenting symptoms included growth deficiency and absent thumbs in one patient and osteogenic sarcoma and poikiloderma in the second patient. The growth-deficient patient was diagnosed with growth hormone deficiency and had a subnormal response to growth hormone supplementation. Neither malformations nor growth deficiency were present in the patient with osteogenic sarcoma, and her only other manifestation of RTS was poikiloderma. The diagnosis of RTS should be considered in all patients with osteogenic sarcoma, particularly if associated with skin changes.

publication date

  • November 27, 2000



  • Academic Article


Digital Object Identifier (DOI)

  • 10.1002/1096-8628(20001127)95:3<204::AID-AJMG4>3.0.CO;2-Q

PubMed ID

  • 11102924

Additional Document Info

start page

  • 204

end page

  • 7


  • 95


  • 3