Pérez ML, Santillán HY

Language: Spanish
References: 4
Page: 266-270
PDF size: 98.25 Kb.

ABSTRACT

Neonatal progeroid syndrome (NPS), or Wiedemann-Rautenstrauch syndrome, is a recessive autosomal disease, characterized by prenatal low weight and stature, relative macrocephaly, triangular old looking face, delay in neurological development and premature death in the childhood, this syndrome presents genetic heterogeneity. The diagnosis is based on its clinical characteristics. We present the evolution of a case from birth to 5 years and we compared this case with the existing literature.

REFERENCES

1. Pivnick E, Angle B, Kaufman R, Hall B, et al. Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review. Am J Med Genet 2000;90:131-140.

2. Gorlin RJ, Cohen MM Jr, Hennekam RC. Syndromes with unusual facies: well-known syndromes. In: Syndromes of the head and neck. 4th ed. New York: Oxford University Press, 2001;p:1005-1008.

3. Megarbane A, Loiselet J. Clinical manifestation of a severe neonatal progeroid syndrome. Clin Genet1997; 51(3):200-204.

4. Courtens W, Nuytinck L, Fricx C, Andre J, Vamos E. A probable case of Wiedemann-Rautenstrauch syndrome or neonatal progeroid syndrome and review of the literature. Clin Dysmorphol 1997;6(3):219-227.