✦ LIBER ✦

Variable presentation of Rothmund-Thomson syndrome

✍ Scribed by Pujol, Lisa A. ;Erickson, Robert P. ;Heidenreich, Randall A. ;Cunniff, Christopher

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 154 KB
Volume: 95
Category: Article
ISSN: 0148-7299
DOI: 10.1002/1096-8628(20001127)95:3<204::aid-ajmg4>3.0.co;2-q

No coin nor oath required. For personal study only.

✦ Synopsis

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.

📜 SIMILAR VOLUMES

Rothmund-Thomson syndrome and osteosarco

Rothmund-Thomson syndrome and osteosarcoma

✍ Cumin, Isabelle; Cohen, Jean-Yves; David, Albert; Méchinaud, Françoise; Avet-Loi 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 302 KB

The Rothmund-Thomson syndrome (RTS), also called poikiloderma congenitale is a rare autosomal recessive disease first described in 1868. This syndrome includes most frequently seen skin lesions (atrophy, telangiectases, pigmentation), cataracts and bone defects (dysostosis, dysplasia). Some authors

Rothmund-Thomson syndrome complicated by

Rothmund-Thomson syndrome complicated by osteosarcoma

✍ J. S. Green; Andrew B. Rickett 📂 Article 📅 1998 🏛 Springer-Verlag 🌐 English ⚖ 769 KB

Rothmund-Thomson syndrome, Klippel-Feil

Rothmund-Thomson syndrome, Klippel-Feil syndrome, and osteosarcoma

✍ Bethlehem Gelaw; Said Ali; Joseph Becker 📂 Article 📅 2004 🏛 Springer 🌐 English ⚖ 172 KB

Osteogenic sarcoma in the Rothmund-Thoms

Osteogenic sarcoma in the Rothmund-Thomson syndrome

✍ Leonard, Andrea; Craft, Alan W.; Moss, Celia; Malcolm, Archie J. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 377 KB

Two children who had the Rothmund-whom information was available showed un-Thomson syndrome and developed osteo-due sensitivity to cancer chemotherapy agents sarcoma are reported. The 10 previously re-with prolonged myelosuppression and severe ported cases are reviewed. The osteosarco-mucositis. It

Growth hormone deficiency in the Rothmun

Growth hormone deficiency in the Rothmund-Thomson syndrome

✍ Kaufmann, Silvia ;Jones, Marilyn ;Culler, Floyd L. ;Jones, Kenneth Lee ;Opitz, J 📂 Article 📅 1986 🏛 John Wiley and Sons 🌐 English ⚖ 516 KB

We describe the first proven Occurrence of growth hormone deficiency in an individual with the Rothmund-Thomson syndrome. This was suspected because of the patient's severely retarded growth and bone age and her failure to respond normally to growth hormone stimulation testing with I-DOPA, arginine,

Clonal lines of aneuploid cells in Rothm

Clonal lines of aneuploid cells in Rothmund-Thomson syndrome

✍ Der Kaloustian, Vazken M. ;McGill, James J. ;Vekemans, Michel ;Kopelman, Hinda R 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 399 KB

We report on a 21-month-old white boy with the Rothmund-Thomson syndrome. The karyotype on fibroblasts from an area of skin with poikiloderma showed the 46,XY,17 + der(17),t(2;17)(qll;p13) pattern. ## Karyotype on fibroblasts from normal skin showed two different abnormal patterns: 47,XY, + 8 and