Wiedemann–Rautenstrauch syndrome: Report of a variant case


  • How to Cite this Article: Kiraz A, Ozen S, Tubas F, Usta Y, Aldemir O, Alanay Y. 2012. Wiedemann–Rautenstrauch syndrome: Report of a variant case. Am J Med Genet Part A. 158A:1434–1436.


Wiedemann–Rautenstrauch syndrome (WRS) is a rare autosomal recessive disorder that includes premature aging phenotype at birth. The condition is also known as a neonatal progeroid syndrome. Up to now only a few published case reports have been documented. The syndrome is characterized by progeroid appearance, decreased subcutaneous fat, hypotrichosis, macrocephaly, and in some natal teeth. We describe a new patient with features of bilaterally pelvicalyceal ectasia and partial syndactyly on 2th and 3th toes, not previously described, to our knowledge. © 2012 Wiley Periodicals, Inc.