Wiedemann-Rautenstrauch syndrome: Report of a variant case

Kiraz A., Ozen S., TUBAŞ F., Usta Y., Aldemir O., ALANAY Y.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.158A, sa.6, ss.1434-1436, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 158A Sayı: 6
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1002/ajmg.a.35336
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1434-1436
  • Anahtar Kelimeler: Wiedemann-Rautenstrauch syndrome, neonatal progeria, pelvicalyceal ectasia, LMNA gene, NEONATAL PROGEROID SYNDROME
  • Erciyes Üniversitesi Adresli: Evet

Özet

WiedemannRautenstrauch 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. (c) 2012 Wiley Periodicals, Inc.