title: Wiedemann-Rautenstrauch syndrome: report of a variant case.
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.
authors.affiliation: Department of Medical Genetics, Maternitiy and Children Hospital, Mersin, Turkey. aslihan_ak@yahoo.com.
authors.forename: Aslihan
authors.initials: A
authors.lastname: Kiraz
authors.forename: Samim
authors.initials: S
authors.lastname: Ozen
authors.forename: Filiz
authors.initials: F
authors.lastname: Tubas
authors.forename: Yusuf
authors.initials: Y
authors.lastname: Usta
authors.forename: Ozgur
authors.initials: O
authors.lastname: Aldemir
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Alanay
mesh_terms: D002675:Child, Preschool; D019066:Facies; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis*; D006801:Humans; D010641:Phenotype; D011371:Progeria / Q000175:diagnosis*