Literature DB >> 28593008

Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation.

Shruti Khurana1, Vikram Saini2, Vibhor Wadhwa3, Harveen Kaur4.   

Abstract

Meckel-Gruber syndrome (MGS) is a rare autosomal recessive disorder which is characterized by a classic triad of occipital encephalocele, polycystic kidneys and postaxial polydactyly. We describe a case of classic MGS, diagnosed on ultrasonography and genetic analysis, with subsequent confirmation and correlation by fetal autopsy.

Entities:  

Keywords:  Fetal autopsy; Meckel–Gruber syndrome; Ultrasonography

Mesh：

Substances：

Year:  2017        PMID： 28593008      PMCID： PMC5440330          DOI： 10.1007/s40477-016-0231-4

Source DB:  PubMed          Journal:  J Ultrasound        ISSN： 1876-7931


  20 in total

1.  A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome.

Authors:  M Ahdab-Barmada; D Claassen
Journal:  J Neuropathol Exp Neurol       Date:  1990-11       Impact factor: 3.685

2.  Meckel-Gruber syndrome: ultrasonographic diagnosis at 13 weeks' gestational age in an at-risk case.

Authors:  A Pachì; A Giancotti; F Torcia; V de Prosperi; E Maggi
Journal:  Prenat Diagn       Date:  1989-03       Impact factor: 3.050

3.  Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

Authors:  Valeska Frank; Nadina Ortiz Brüchle; Silke Mager; Susanna G M Frints; Axel Bohring; Gabriele du Bois; Irmgard Debatin; Heide Seidel; Jan Senderek; Nesrin Besbas; Unda Todt; Christian Kubisch; Tiemo Grimm; Fulya Teksen; Sevim Balci; Klaus Zerres; Carsten Bergmann
Journal:  Hum Mutat       Date:  2007-06       Impact factor: 4.878

4.  First-trimester diagnosis of Meckel-Gruber syndrome by transabdominal sonography in a low-risk case.

Authors:  J M Braithwaite; D L Economides
Journal:  Prenat Diagn       Date:  1995-12       Impact factor: 3.050

5.  Diagnosis of the Meckel-Gruber syndrome at eleven to fourteen weeks' gestation.

Authors:  W Sepulveda; N J Sebire; A Souka; R J Snijders; K H Nicolaides
Journal:  Am J Obstet Gynecol       Date:  1997-02       Impact factor: 8.661

6.  High incidence of Meckel's syndrome in Gujarati Indians.

Authors:  I D Young; A B Rickett; M Clarke
Journal:  J Med Genet       Date:  1985-08       Impact factor: 6.318

Review 7.  Meckel syndrome: genetics, perinatal findings, and differential diagnosis.

Authors:  Chih-Ping Chen
Journal:  Taiwan J Obstet Gynecol       Date:  2007-03       Impact factor: 1.705

8.  Study of the malformation of ductal plate of the liver in Meckel syndrome and review of other syndromes presenting with this anomaly.

Authors:  C Sergi; S Adam; P Kahl; H F Otto
Journal:  Pediatr Dev Pathol       Date:  2000 Nov-Dec

9.  Meckel syndrome and the prenatal diagnosis of neural tube defects.

Authors:  M J Seller
Journal:  J Med Genet       Date:  1978-12       Impact factor: 6.318

10.  Fetal autopsy of Meckel Gruber syndrome -a case report.

Authors:  Chandrika Bolineni; Ezhil Arasi Nagamuthu; Neelaveni Neelala
Journal:  Fetal Pediatr Pathol       Date:  2013-02-27       Impact factor: 0.958
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