Literature DB >> 2063927

Dandy-Walker malformation in the Meckel syndrome.

R Herriot1, L A Hallam, E S Gray.   

Abstract

The Meckel syndrome is an autosomal recessive condition and includes a heterogeneous group of CNS malformations, most frequently occipital encephalocele. We report on 2 sibs and one other unrelated case with Meckel syndrome in whom the CNS anomaly was the Dandy-Walker malformation, an association not previously described. The criteria used to diagnose the Meckel syndrome are also reviewed.

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Year:  1991        PMID: 2063927     DOI: 10.1002/ajmg.1320390218

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

Review 1.  Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.

Authors:  Clare V Logan; Zakia Abdel-Hamed; Colin A Johnson
Journal:  Mol Neurobiol       Date:  2010-11-27       Impact factor: 5.590

Review 2.  Meckel syndrome.

Authors:  R Salonen; P Paavola
Journal:  J Med Genet       Date:  1998-06       Impact factor: 6.318

3.  A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly.

Authors:  Tao Wang; Yu-Xing Liu; Fang-Mei Luo; Yi Dong; Ya-Li Li; Liang-Liang Fan
Journal:  Front Pediatr       Date:  2021-11-29       Impact factor: 3.418

  3 in total

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