SavedAdd your journal

Journals / GORM:Gynecology Obstetrics & Reproductive Medicine / 2009 / Cilt: 15 - Sayı: 3

Nadir görülen bir fetal anomali: Fraser sendromu

A rarely seen fetal anomaly: Fraser syndrome

Miğraci TOSUN
Özlem ULUSOY
Arif KÖKÇÜ
Mehmet B. ÇETİNKAYA
Oğuz AYDIN
Gönül OĞUR
Pages
162–164
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

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

We aimed to report a case of Fraser Syndrome that was diagnosed prenatally at 19 weeks of gestation with multiple ultrasonographic anomalies and terminated at 21 weeks of gestation, to review prenatal diagnostic criteria and possible etiologic factors of Fraser syndrome.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:There are about 200 published case reports of patients with Fraser syndrome and several comprehensive reviews have previously been published.
📊
Key Findings & Data:Fraser syndrome has a recurrence risk of 25% among siblings, therefore prenatal diagnosis is an important task for the diagnostician counseling affected families.
💡
Conclusion & Impact:We aimed to report a case of Fraser Syndrome that was diagnosed prenatally at 19 weeks of gestation with multiple ultrasonographic anomalies and terminated at 21 weeks of gestation, to review prenatal diagnostic criteria and possible etiologic factors of Fraser syndrome.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

There are about 200 published case reports of patients with Fraser syndrome and several comprehensive reviews have previously been published. Fraser syndrome has a recurrence risk of 25% among siblings, therefore prenatal diagnosis is an important task for the diagnostician counseling affected families. We aimed to report a case of Fraser Syndrome that was diagnosed prenatally at 19 weeks of gestation with multiple ultrasonographic anomalies and terminated at 21 weeks of gestation, to review prenatal diagnostic criteria and possible etiologic factors of Fraser syndrome.

Özet

Fraser Sendrom’u tespit edilen yayınlanmış yaklaşık 200 vaka sunumu ve birkaç kapsamlı inceleme vardır. Fraser Sendromu’ nun kardeşler arasında %25 tekrarlama riski olduğundan etkilenmiş ailelere tanısal danışmanlık verilmesi önemlidir. Bu vaka taktiminde 19. gebelik haftasında birçok ultrasonografik ano mali ile prenatal tanısı konulan ve 21 gebelik haftasında sonlandırılan Fraser Sendromu’nu sunmayı ve ancak postnatal 21. haftada tanı konulan Fraser Sendrom’unu sunmayı, prenatal tanı kriterlerini ve muhtemel etyolojik faktörleri gözden geçirmeyi amaçladık.

🔖

Cite This Article

TOSUN, M., ULUSOY, Ö., KÖKÇÜ, A., ÇETİNKAYA, M. B., AYDIN, O., OĞUR, G. (2009). Nadir görülen bir fetal anomali: Fraser sendromu. GORM:Gynecology Obstetrics & Reproductive Medicine, Cilt: 15 - Sayı: 3, 162–164. https://ajindex.com/articles/227713

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (8)

  1. Berg C, Geipel A, Germer U, Pertersen-Hansen A, Koch-Dörfler M, Gembruch U. Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature. Ultrasound Obstet Gynecol 2001;18:76-80
  2. Thomas IT, Frias JL, Felix V, Sanchez de Leon L, Hernandez RA, Jones MC. Isolated and syndromic cryptophthalmos. Am J Med Genet 1986;25:85-98
  3. Slavotinek AM and Tifft CJ. Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. Journal of Medical Genetics 2002;39:623-633
  4. Fryns JP, Van Schoubroeck D, Vandenberghe K, Nagels H, and Klerckx P. Short communication Diagnostic echographic findings in cryptophthalmos syndrome (Fraser Syndrome). Prenatal Diagnosis 1997;17(6):582-584
  5. Fraser GR. "Our genetical load": a review of some aspects of genetical variation. Ann Hum Genet 1962;25:387-415
  6. McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nature Genetics 2003; 34(2):203-208
  7. Takamiya K, Kostourou V, Adams S, Jadeja S, Chalepakis G, ScamblerPJ, Huganir RL, Adams RH. A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. Nature Genetics 2004;36(2):172-177
  8. Feldman E, Shalev E, Weiner E, Cohen H, Zuckerman H. Microphthalmia -prenatal ultrasonic diagnosis: a case report. Prenat Diagn 1985; 5:205-7