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.
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Authors | Aslihan Kiraz, Samim Ozen, Filiz Tubas, Yusuf Usta, Ozgur Aldemir, Yasemin Alanay |
Journal | American journal of medical genetics. Part A
(Am J Med Genet A)
Vol. 158A
Issue 6
Pg. 1434-6
(Jun 2012)
ISSN: 1552-4833 [Electronic] United States |
PMID | 22585414
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2012 Wiley Periodicals, Inc. |
Topics |
- Child, Preschool
- Facies
- Female
- Fetal Growth Retardation
(diagnosis)
- Humans
- Phenotype
- Progeria
(diagnosis)
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