| Autor: |
Pujol LA; Department of Pediatrics, and the Steele Memorial Children's Research Center, University of Arizona, Tucson, Arizona, USA., Erickson RP, Heidenreich RA, Cunniff C |
| Jazyk: |
angličtina |
| Zdroj: |
American journal of medical genetics [Am J Med Genet] 2000 Nov 27; Vol. 95 (3), pp. 204-7. |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
|
Plný text