Variable presentation of Rothmund-Thomson syndrome

Lisa A. Pujol, Robert P. Erickson, Randall A. Heidenreich, Christopher Cunniff

Research output: Contribution to journalArticlepeer-review

36 Scopus citations


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. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)204-207
Number of pages4
JournalAmerican journal of medical genetics
Issue number3
StatePublished - Nov 27 2000


  • Growth hormone deficiency
  • Osteogenic sarcoma
  • Poikiloderma
  • Rothmund-Thomson syndrome

ASJC Scopus subject areas

  • Genetics(clinical)


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