PREMATURE AGING SYNDROME WITH OSTEOSARCOMA, CATARACTS, DIABETES-MELLITUS, OSTEOPOROSIS, ERYTHROID MACROCYTOSIS, SEVERE GROWTH AND DEVELOPMENTAL DEFICIENCY

Authors
OKAMOTO N SATOMURA K HATSUKAWA Y HAYASHIDA M SAIJO K OHNO T GOTO M
Citation
N. Okamoto et al., PREMATURE AGING SYNDROME WITH OSTEOSARCOMA, CATARACTS, DIABETES-MELLITUS, OSTEOPOROSIS, ERYTHROID MACROCYTOSIS, SEVERE GROWTH AND DEVELOPMENTAL DEFICIENCY, American journal of medical genetics, 69(2), 1997, pp. 169-170
Citations number
5
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
69
Issue
2
Year of publication
1997
Pages
169 - 170
Database
ISI
SICI code
0148-7299(1997)69:2<169:PASWOC>2.0.ZU;2-S
Abstract
We describe a premature aging disorder in a 15-year-old girl with seve re growth and developmental deficiency, Her clinical findings included osteosarcoma, nuclear and subcapsular cataracts, insulin-resistant di abetes mellitus, osteoporosis, epilepsy foot ulcers, erythroid macrocy tosis, and unusual facial appearance, Hyaluronic acid levels in serum and urine were normal, Cultured skin fibroblasts had a normal potentia l for in vitro growth, This finding represents a new and unique premat ure aging syndrome. (C) 1997 Wiley-Liss, Inc.