H. Arboleda et al., WIEDEMANN-RAUTENSTRAUCH NEONATAL PROGEROID SYNDROME - REPORT OF 3 NEWPATIENTS, Journal of Medical Genetics, 34(5), 1997, pp. 433-437
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.