Literature DB >> 27493349

Meckel-Gruber syndrome: Antenatal diagnosis and ethical perspectives.

Sarar Mohamed, Fatima Ibrahim1, Kameel Kamil2, Satti A Satti2.   

Abstract

Meckel-Gruber syndrome (MGS) is an autosomal recessive disorder characterized by occipital encephalocele, polycystic kidneys and variable other congenital malformations. We report on a Sudanese patient with MGS diagnosed by antenatal ultrasound scan. Pregnancy was terminated at 25 weeks of gestation.

Entities:  

Keywords:  Cystic kidneys; Encephalocele; Meckel-Gruber syndrome; Polydactyly

Year:  2012        PMID： 27493349      PMCID： PMC4949904     

Source DB:  PubMed          Journal:  Sudan J Paediatr        ISSN： 0256-4408


  15 in total

Review 1.  Ethical guidelines in genetics and genomics. An Islamic perspective.

Authors:  Aida I Al-Aqeel
Journal:  Saudi Med J       Date:  2005-12       Impact factor: 1.484

2.  Meckel-Gruber syndrome in association with an occipital meningocele.

Authors:  Michael Walsh; Patrick Graupman
Journal:  Pediatr Neurosurg       Date:  2006       Impact factor: 1.162

3.  Prenatal diagnosis of Meckel-Gruber syndrome in a pregnancy obtained with ICSI.

Authors:  Claudio Celentano; Federico Prefumo; Marco Liberati; Giuseppina Gallo; Quirino Di Nisio; Sigfried Rotmensch
Journal:  J Assist Reprod Genet       Date:  2006-06-21       Impact factor: 3.412

4.  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

5.  Meckel Gruber Syndrome--a case report.

Authors:  S R Desai; J V Wader
Journal:  Indian J Pathol Microbiol       Date:  2004-07       Impact factor: 0.740

6.  Meckel-Gruber syndrome: a rare clinical entity.

Authors:  Tulika Jha; Jayati Bardhan; Bibekananda Das; Kajal Kumar Patra; Badal Dhali; Shelley Seth
Journal:  J Indian Med Assoc       Date:  2010-09

7.  Meckel-Gruber syndrome: A rare and lethal anomaly.

Authors:  Abdelmoneim E M Kheir; Abdelmutalab Imam; Ilham M Omer; Ibtsama M A Hassan; Sara A Elamin; Esra A Awadalla; Mohammed H Gadalla; Tagwa A Hamdoon
Journal:  Sudan J Paediatr       Date:  2012

Review 8.  Islamic ethical framework for research into and prevention of genetic diseases.

Authors:  Aida I Al Aqeel
Journal:  Nat Genet       Date:  2007-10-22       Impact factor: 38.330

9.  Combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in Meckel-Gruber syndrome: a case report.

Authors:  Mana Taweevisit; Jitsupa Treetipsatit; Patou Tantbirojn; Paul Scott Thorner
Journal:  Pediatr Dev Pathol       Date:  2009 Sep-Oct

10.  Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.

Authors:  Valeska Frank; Anneke I den Hollander; Nadina Ortiz Brüchle; Marijke N Zonneveld; Gudrun Nürnberg; Christian Becker; Gabriele Du Bois; Heide Kendziorra; Susanne Roosing; Jan Senderek; Peter Nürnberg; Frans P M Cremers; Klaus Zerres; Carsten Bergmann
Journal:  Hum Mutat       Date:  2008-01       Impact factor: 4.878
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