title: Premature aging syndrome with osteosarcoma, cataracts, diabetes mellitus, osteoporosis, erythroid macrocytosis, severe growth and developmental deficiency.
abstract: 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.
authors.affiliation: Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Okamoto
authors.forename: K
authors.initials: K
authors.lastname: Satomura
authors.forename: Y
authors.initials: Y
authors.lastname: Hatsukawa
authors.forename: M
authors.initials: M
authors.lastname: Hayashida
authors.forename: K
authors.initials: K
authors.lastname: Saijo
authors.forename: T
authors.initials: T
authors.lastname: Ohno
authors.forename: M
authors.initials: M
authors.lastname: Goto
mesh_terms: 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
chemical_list: D015415:Biomarkers; D006820:Hyaluronic Acid