Total: 1 |
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PMID (PMCID) | ||
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10607952 |
MIXED_SAMPLE | Infant, Newborn |
Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review. | ||
Pivnick EK, Angle B, Kaufman RA, Hall BD, Pitukcheewanont P, Hersh JH, Fowlkes JL, Sanders LP, O'Brien JM, Carroll GS, Gunther WM, Morrow HG, Burghen GA, Ward JC. Am J Med Genet. 2000;90(2):131-40. |
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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. |