The Wiedemann-Rautenstrauch neonatal progeroid syndrome: a case report and review of the literature.
We present the case of a post-term newborn with intrauterine growth retardation, pseudohydrocephalus, a tiny face and mouth, thin wrinkled skin, an aged appearance, lipoatrophy and a normal cranial CT scan, suggestive of the Wiedemann-Rautenstrauch neonatal progeroid syndrome. He developed hypothyroidism on day 18 due to a partial organification disorder as did a later born sib. His mental development remains normal at age 2 with delayed growth at -2.5 SD. The case is presented and discussed and the literature is reviewed.
Bitoun
P
P
Department of Paediatric Genetics, Hopital Jean Verdier, Bondy, France.
Lachassine
E
E
Sellier
N
N
Sauvion
S
S
Gaudelus
J
J
D005317:Fetal Growth Retardation / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011371:Progeria / Q000473:pathology*; D013577:Syndrome