Premature aging syndrome with osteosarcoma, cataracts, diabetes mellitus, osteoporosis, erythroid macrocytosis, severe growth and developmental deficiency.
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.
Okamoto
N
N
Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Japan.
Satomura
K
K
Hatsukawa
Y
Y
Hayashida
M
M
Saijo
K
K
Ohno
T
T
Goto
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D015415:Biomarkers / Q000097:blood; D002386:Cataract / Q000175:diagnosis; D003920:Diabetes Mellitus / Q000175:diagnosis; D005260:Female; D006801:Humans; D006820:Hyaluronic Acid / Q000097:blood*; D010024:Osteoporosis / Q000175:diagnosis; D012516:Osteosarcoma / Q000175:diagnosis; D011371:Progeria / Q000097:blood / Q000235:genetics*; D013577:Syndrome
D015415:Biomarkers; D006820:Hyaluronic Acid