Fraser Syndrome: A Report of Two Cases

KILINÇ N., Demir S., Demir B.

HASEKI TIP BULTENI-MEDICAL BULLETIN OF HASEKI, cilt.53, sa.3, ss.273-276, 2015 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 53 Sayı: 3
  • Basım Tarihi: 2015
  • Doi Numarası: 10.4274/haseki.2503
  • Dergi Adı: HASEKI TIP BULTENI-MEDICAL BULLETIN OF HASEKI
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.273-276
  • Çanakkale Onsekiz Mart Üniversitesi Adresli: Evet

Özet

Fraser syndrome (cryptophthalmos syndactyly syndrome) is a rare autosomal recessive disorder. The main features are cryptophthalmos (hidden eye), ear, nose and skeletal malformations, syndactyly, laryngeal stenosis and malformation of the uro-genital system, lungs, liver, and the central nervous system. Renal anomalies (unilateral/bilateral agenesis) occur in 85% of cases. These anomalies were first documented by Fraser in 1962. In this paper, we present two cases of Fraser syndrome diagnosed after a normal spontaneous vaginal delivery without prenatal follow-up in the light of the literature.