Fraser Syndrome: A Report of Two Cases
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Tarih
2015
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Galenos Yayincilik
Erişim Hakkı
info:eu-repo/semantics/openAccess
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.
Açıklama
Anahtar Kelimeler
Fraser syndrome, cryptophthalmos, syndactyly, autopsy
Kaynak
Haseki Tip Bulteni-Medical Bulletin of Haseki
WoS Q Değeri
N/A
Scopus Q Değeri
Q3
Cilt
53
Sayı
3
