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Wiedemann–Rautenstrauch syndrome: Report of a variant case
Author(s) -
Kiraz Aslihan,
Ozen Samim,
Tubas Filiz,
Usta Yusuf,
Aldemir Ozgur,
Alanay Yasemin
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35336
Subject(s) - macrocephaly , hypotrichosis , syndactyly , medicine , phenotype , progeria , dermatology , anatomy , pediatrics , biology , genetics , gene
Abstract 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.