TY - JOUR
T1 - Variable presentation of Rothmund-Thomson syndrome
AU - Pujol, Lisa A.
AU - Erickson, Robert P.
AU - Heidenreich, Randall A.
AU - Cunniff, Christopher
PY - 2000/11/27
Y1 - 2000/11/27
N2 - 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.
AB - 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.
KW - Growth hormone deficiency
KW - Osteogenic sarcoma
KW - Poikiloderma
KW - Rothmund-Thomson syndrome
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U2 - 10.1002/1096-8628(20001127)95:3<204::AID-AJMG4>3.0.CO;2-Q
DO - 10.1002/1096-8628(20001127)95:3<204::AID-AJMG4>3.0.CO;2-Q
M3 - Article
C2 - 11102924
AN - SCOPUS:0034722841
SN - 0148-7299
VL - 95
SP - 204
EP - 207
JO - American journal of medical genetics
JF - American journal of medical genetics
IS - 3
ER -