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Journals / Haseki Tıp Bülteni / 2015 / Cilt: 53 - Sayı: 3

Fraser Syndrome: A Report of Two Cases

Fraser Sendromu: İki Olgu Bildirimi

Nihal KILINÇ
Pages
273–276
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

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)

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Fraser syndrome (cryptophthalmos syndactyly syndrome) is a rare autosomal recessive disorder.
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Key Findings & Data:Renal anomalies (unilateral/bilateral agenesis) occur in 85% of cases.
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Conclusion & Impact: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)
🔬Design:Research Article
📍Scope:2015 Verileri
⚙️Variables:Domain Parameters

Abstract

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)

Özet

Fraser sendromu (kriptoftalmos-sindaktili sendromu) nadir görülen otozomal resesif bir hastalıktır. Kriptoftalmos (saklı göz), kulak, burun ve iskelet malformasyonları, sindaktili, laringeal darlık ve ürogenital, akciğer, karaciğer ve santral sinir sisteminin malformasyonu ana özelliklerdir. Renal anomaliler %85’inde (tek veya iki taraflı) ortaya çıkar. Bu sendrom ilk kez 1962 yılında Fraser tarafından bildirilmiştir. Prenatal takibi yapılmayan normal spontan vajinal doğum sonrası tanı konulan iki Fraser sendromu olgusu literatür bilgileri ışığında sunuldu. (Ha­se­ki T›p Bül­te­ni 2015; 53: 273-6)

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Cite This Article

KILINÇ, N. (2015). Fraser Syndrome: A Report of Two Cases. Haseki Tıp Bülteni, Cilt: 53 - Sayı: 3, 273–276. https://ajindex.com/articles/214734

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