Literature DB >> 18603929

Meckel-Gruber syndrome.

U Ramachandran1, T Malla, K S Joshi.   

Abstract

Meckel- Gruber syndrome is a rare lethal, autosomal disorder. It has been linked to chromosome 17. It consists of a triad of occipital meningoencephalocoele, large polycystic kidneys and post-axial polydactyly. Death is mainly due to pulmonary hypoplasia. We report this rare case which presented with many associated defects.

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Mesh：

Year:  2006        PMID： 18603929

Source DB:  PubMed          Journal:  Kathmandu Univ Med J (KUMJ)        ISSN： 1812-2027


  6 in total

1.  Meckel gruber syndrome.

Authors:  Jayeeta Roy; Manidip Pal
Journal:  J Clin Diagn Res       Date:  2013-09-10

2.  Meckel Gruber syndrome, A case report.

Authors:  Kiper Aslan; Elif Külahçı Aslan; Adnan Orhan; Mehmet Aral Atalay
Journal:  Organogenesis       Date:  2015-06-02       Impact factor: 2.500

3.  Meckel Gruber Syndrome: Second trimester diagnosis of a case in a non-consanguineous marriage.

Authors:  Areej Alam; Mehreen Adhi; Raffat Bano; Aisha Zubair; Ammara Mushtaq
Journal:  Pak J Med Sci       Date:  2013-01       Impact factor: 1.088

4.  Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature.

Authors:  Sandesh V Parelkar; Satish P Kapadnis; Beejal V Sanghvi; Prashant B Joshi; Dinesh Mundada; Sanjay N Oak
Journal:  J Pediatr Neurosci       Date:  2013-05

5.  Meckel gruber syndrome: report of two cases with review of literature.

Authors:  Aneel Myageri; Vandana Grampurohit; Ravikala Rao
Journal:  J Family Med Prim Care       Date:  2013-01

6.  Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with TMEM67 Mutations.

Authors:  Agnieszka Stembalska; Małgorzata Rydzanicz; Agnieszka Pollak; Grazyna Kostrzewa; Piotr Stawinski; Mateusz Biela; Rafal Ploski; Robert Smigiel
Journal:  Genes (Basel)       Date:  2021-07-16       Impact factor: 4.096
  6 in total

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