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Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): report of three affected sibs.

Research paper by Gonzalo G Arboleda, Luis Carlos LC Morales, Luis L Quintero, Humberto H Arboleda

Indexed on: 15 Jun '11Published on: 15 Jun '11Published in: American Journal of Medical Genetics Part A



Abstract

The Wiedemann-Rautenstrauch syndrome (WRS) (OMIM 264090) is a rare progeroid entity. WRS patients are characterized by premature aging present at birth including pseudohydrocephalus, cranio-facial disproportion, reduced subcutaneous fat, thin skin, rigid and thick joints, and neonatal teeth in some cases. Here we describe three sibs with WRS from unaffected parents and without consanguinity. Our findings support autosomal recessive inheritance in WRS and support the possibility of homozygocity mapping as a good approach to find the causative gene.