Fraser Syndrome: A Report of Two Cases

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 sys...

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Veröffentlicht in:Haseki tıp bülteni 2015-09, Vol.53 (3)
Hauptverfasser: Kilinç, Nihal, Demir, Süreyya, Demir, Bülent
Format: Artikel
Sprache:eng ; tur
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Zusammenfassung: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. (The Me­di­cal Bul­le­tin of Ha­se­ki 2015; 53: 273-6)
ISSN:1302-0072
2147-2688
DOI:10.4274/haseki.2503