Wiedemann-Rautenstrauch syndrome

Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.

Micrognathia

Developmental hypoplasia of the mandible.


Total: 1

                      


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PMID (PMCID)
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.
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.