Article

Wiedemann-Rautenstrauch syndrome: report of a variant case.

Department of Medical Genetics, Maternitiy and Children Hospital, Mersin, Turkey. .
American Journal of Medical Genetics Part A (impact factor: 2.39). 05/2012; 158A(6):1434-6. DOI:10.1002/ajmg.a.35336 pp.1434-6
Source: PubMed

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.

0 0
 · 
0 Bookmarks
 · 
76 Views
Data provided are for informational purposes only. Although carefully collected, accuracy cannot be guaranteed. The impact factor represents a rough estimation of the journal's impact factor and does not reflect the actual current impact factor. Publisher conditions are provided by RoMEO. Differing provisions from the publisher's actual policy or licence agreement may be applicable.

Keywords

bilaterally pelvicalyceal ectasia
 
includes premature
 
natal teeth
 
neonatal progeroid syndrome
 
new patient
 
partial syndactyly
 
rare autosomal recessive disorder
 
subcutaneous fat
 
Wiedemann-Rautenstrauch syndrome