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Journals / GORM:Gynecology Obstetrics & Reproductive Medicine / 2009 / Cilt: 15 - Sayı: 1

Prenatal tespit edilen fryns syndrome: Olgu sunumu

Prenatal diagnosis of fryns syndrome: A case report

Miğraci TOSUN
Handan ÇELİK
Emre BEŞE
Erdal MALATYALIOĞLU
Mehmet B. ÇETİNKAYA
Mehmet TÜRE
Gönül OĞUR
Pages
47–49
DOI
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AI Summary & Key Takeaways

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

Macroscopic inspection revealed low-set posteriorly rotated ears, microretrognathia, complet mid cleft palate, a broad nasal bridge, low hairline, short neck, distal limb hypoplasia, rocker bottom feet, atypical female dominant genitalia.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Fryns syndrome (FS) is a rare malformation.
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Key Findings & Data:We report a case of FS referred to our clinic at 25 weeks’ gestation with a diagnosis of congenital diaphragmatic hernia.
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Conclusion & Impact:Macroscopic inspection revealed low-set posteriorly rotated ears, microretrognathia, complet mid cleft palate, a broad nasal bridge, low hairline, short neck, distal limb hypoplasia, rocker bottom feet, atypical female dominant genitalia.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Fryns syndrome (FS) is a rare malformation. Major diagnostic criteria include congenital diaphragmatic hernia, distal limb and nail hypoplasia and abnormal facial appearance. We report a case of FS referred to our clinic at 25 weeks’ gestation with a diagnosis of congenital diaphragmatic hernia. Sonographic examination of the fetus revealed microretrognathia, a short neck with nuchal folds (17 mm), a left-sided diaphragmatic hernia, bilateral pelviectasis and cutaneous edema. The diagnosis of FS was made after exclusion of chromosome aberrations by amniocentesis and delivery of the fetus. Macroscopic inspection revealed low-set posteriorly rotated ears, microretrognathia, complet mid cleft palate, a broad nasal bridge, low hairline, short neck, distal limb hypoplasia, rocker bottom feet, atypical female dominant genitalia.

Özet

Fryns sendromu (FS) nadir görülen bir malformasyondur. En önemli tanı kriterleri konjenital diafragmatik herni, distal ekstremite ve tırnak hipoplazisi ve anormal yüzdür. Bu çalışmamızda, 25. gebelik haftasında konjenital diafragmatik herni tespit edilmesi üzerine kliniğimize gönderilen FS olgusu sunulmaya çalışıldı. Ultrasonografik incelemede mikroretrogınati, kısa boyun ve artmış ense kalınlığı (17 mm), sol yerleşimli diafragmatik herni, bilateral pelviektazi ve cilt ödemi tespit edildi. Kromozomal anomalilerin amniosentezle ekarte edilmesi ve fetusun doğumuyla Fryns Sendromu tanısı konuldu. Makros ko pik incelemede aşağı yerleşimli arkaya dönük kulaklar, mikroretrogınati, komplet orta damak yarığı, geniş burun kökü, saç çizgisinde düşüklük, kısa boyun, distal ekstremitelerde hipoplazi, beşik ayak (rocker bottom feet), atipik görünümde dişi belirgin genital yapı izlendi.

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Cite This Article

TOSUN, M., ÇELİK, H., BEŞE, E., MALATYALIOĞLU, E., ÇETİNKAYA, M. B., TÜRE, M., OĞUR, G. (2009). Prenatal tespit edilen fryns syndrome: Olgu sunumu. GORM:Gynecology Obstetrics & Reproductive Medicine, Cilt: 15 - Sayı: 1, 47–49. https://ajindex.com/articles/227033

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