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

Enikö K. Pivnick*, Brad Angle, Robert A. Kaufman, Bryan D. Hall, Pisit Pitukcheewanont, Joseph H. Hersh, John L. Fowlkes, Lynda P. Sanders, John M. O'Brien, Gregory S. Carroll, Wendy M. Gunther, Helen G. Morrow, George A. Burghen, Jewell C. Ward

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

58 Scopus citations

Abstract

The neonatal progeroid syndrome (NPS), or Wiedemann- Rautenstrauch, is a rare autosomal recessive disorder comprised of generalized lipoatrophy except for fat pads in the suprabuttock areas, hypotrichosis of the scalp hair, eyebrows, and eyelashes, relative macrocephaly, triangular face, natal teeth, and micrognathia. We report on 5 new patients who demonstrate phenotypic variability and who represent the single largest series of NPS reported to date. Two of the patients are from an African-American kindred, an ethnic occurrence not reported previously. The fact that there are 2 pairs of sibs among the 5 patients further supports that NPS is an autosomal recessive condition. This report also includes a review of the previously reported 16 patients and compares them with the 5 new patients. Abnormalities in endocrine 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 radiological abnormalities previously noted in NPS. It is apparent, based on the 21 cases, that mild to moderate mental retardation is common in NPS. Long term follow-up of patients with NPS should provide more information relative to their ultimate psychomotor development. NPS is usually lethal by 7 months; however, on rare occasions, patients have survived into the teens. Our 3 surviving patients range in age from 16-23 months. Variability in the phenotype of NPS is clear; however, the phenotype remains distinct enough to allow a secure diagnosis.

Original languageEnglish (US)
Pages (from-to)131-140
Number of pages10
JournalAmerican Journal of Medical Genetics
Volume90
Issue number2
DOIs
StatePublished - Jan 17 2000

Keywords

  • Hypotrichosis
  • Lipoatrophy
  • Natal teeth
  • Neonatal progeroid syndrome
  • Premature aging
  • Pseudomacrocephaly
  • Wiedemann-Rautenstrauch syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: Report of five new cases and review'. Together they form a unique fingerprint.

Cite this