WIEDEMANN-RAUTENSTRAUCH NEONATAL PROGEROID SYNDROME - REPORT OF 3 NEWPATIENTS

Citation
H. Arboleda et al., WIEDEMANN-RAUTENSTRAUCH NEONATAL PROGEROID SYNDROME - REPORT OF 3 NEWPATIENTS, Journal of Medical Genetics, 34(5), 1997, pp. 433-437
Citations number
12
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00222593
Volume
34
Issue
5
Year of publication
1997
Pages
433 - 437
Database
ISI
SICI code
0022-2593(1997)34:5<433:WNPS-R>2.0.ZU;2-4
Abstract
Wiedemann-Rautenstrauch (WR) syndrome is known as a neonatal progeroid syndrome, with only few published case reports. We describe three add itional patients, two of them sibs, showing the clinical features of W R syndrome. Skeletal abnormalities are reported and assays of hormones and lipids are presented in one patient. Disturbance in bone maturati on and lipid and hormone metabolism appear to be involved in this neon atal progeroid syndrome.