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Wiedemann-Rautenstrauch syndrome: report of a variant case
Aslihan Kiraz1, Samim Ozen, Filiz Tubas
1Department of Medical Genetics, Maternitiy and Children Hospital, Mersin, Turkey. aslihan_ak@yahoo.com.
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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