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Dergiler / GORM:Gynecology Obstetrics & Reproductive Medicine / 2016 / Cilt: 22 - Sayı: 1

First-Trimester Diagnosis of Recurrent Meckel-Gruber Syndrome

Emel Ebru ÖZÇİMEN
Ali Sami GÜRBÜZ
Necati ÖZÇİMEN
Sayfa
47–48
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

Here, we present a case inwhich recurrent MGS was diagnosed in the first trimester.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Meckel - Gruber syndrome (MGS) is a lethal autosomal recessive disorder characterized by occipitalmeningoencephalocele, postaxial polydactyly, and cystic dysplastic kidneys.
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Temel Bulgular & Veri:Meckel - Gruber syndrome (MGS) is a lethal autosomal recessive disorder characterized by occipitalmeningoencephalocele, postaxial polydactyly, and cystic dysplastic kidneys.
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Sonuç & Katkı:Here, we present a case inwhich recurrent MGS was diagnosed in the first trimester.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Abstract

Meckel - Gruber syndrome (MGS) is a lethal autosomal recessive disorder characterized by occipitalmeningoencephalocele, postaxial polydactyly, and cystic dysplastic kidneys. Here, we present a case inwhich recurrent MGS was diagnosed in the first trimester.

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Bu Makaleye Atıf Yap

ÖZÇİMEN, E. E., GÜRBÜZ, A. S., ÖZÇİMEN, N. (2016). First-Trimester Diagnosis of Recurrent Meckel-Gruber Syndrome. GORM:Gynecology Obstetrics & Reproductive Medicine, Cilt: 22 - Sayı: 1, 47–48. https://ajindex.com/articles/226999

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Kaynakça (3)

  1. Henkel KE, Pfeiffer RA, Stoss H. Meckel-Gruber Syndrome. Pathologe 1993;14(1):32-35.
  2. Lu Y, Peng H, Jin Z, et al. Preimplantation genetic diag- nosis for a Chinese family with autosomal recessive Meckel-Gruber Syndrome type 3 (MKS3). PloS One 2013;8(9): e73245. Ramadani HM, Nasrat HA. Prenatal diagnosis of recurrent Meckel Syndrome. Int J Gynaecol Obstet 1992;39(4): 327-32.
  3. Ickowicz V, Eurin D, Maugey-Laulom B, et al. Meckel- Gruber Syndrome: sonography and pathology. Ultrasound Obstet Gynecol 2006;27:296-300.