✦ LIBER ✦

Premature aging syndrome with osteosarcoma, cataracts, diabetes mellitus, osteoporosis, erythroid macrocytosis, severe growth and developmental deficiency

✍ Scribed by Okamoto, Nobuhiko; Satomura, Kenichi; Hatsukawa, Yoshikazu; Hayashida, Midori; Saijo, Kaoru; Ohno, Tadao; Goto, Makoto

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 133 KB
Volume: 69
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970317)69:2<169::aid-ajmg10>3.0.co;2-j

No coin nor oath required. For personal study only.

✦ Synopsis

We describe a premature aging disorder in a 15-year-old girl with severe growth and developmental deficiency. Her clinical findings included osteosarcoma, nuclear and subcapsular cataracts, insulin-resistant diabetes mellitus, osteoporosis, epilepsy, foot ulcers, erythroid macrocytosis, and unusual facial appearance. Hyaluronic acid levels in serum and urine were normal. Cultured skin fibroblasts had a normal potential for in vitro growth. This finding represents a new and unique premature aging syndrome.