Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: Report of five new cases and review

The neonatal progeroid syndrome (NPS), or Wiedemann-Rautenstrauch, is a rar e autosomal recessive disorder comprised of generalized lipoatrophy except for fat pads in the suprabuttock areas, hypotrichosis of the scalp hair, ey ebrows, and eyelashes, relative macrocephaly, triangular face, natal teeth, and micrognathia. We report on 5 new patients who demonstrate phenotypic v ariability and who represent the single largest series of NPS reported to d ate. Two of the patients are from an African-American kindred, an ethnic oc currence not reported previously. The fact that there are 2 pairs of sibs a mong the 5 patients further supports that NPS is an autosomal recessive con dition. This report also includes a review of the previously reported 16 pa tients and compares them with the 5 new patients. Abnormalities in endocrin e and lipid metabolism were found in 3 of 5 patients. Skeletal findings in 2 of our patients demonstrated some new findings as well as the typical rad iological abnormalities previously noted in NPS. It is apparent, based on t he 21 cases, that mild to moderate mental retardation is common in NPS. Lon g term follow-up of patients with NPS should provide more information relat ive to their ultimate psychomotor development. NPS is usually lethal by 7 m onths; however, on rare occasions, patients have survived into the teens. O ur 3 surviving patients range in age from 16-23 months. Variability in the phenotype of NPS is clear; however, the phenotype remains distinct enough t o allow a secure diagnosis. Am. J. Med. Genet. 90:131-140, 2000. (C) 2000 W iley-Liss, Inc.