Literature DB >> 8357569

Goldston syndrome reconsidered.

P Moerman1, P Pauwels, K Vandenberghe, J M Lauweryns, J P Fryns.   

Abstract

We describe two siblings with the combination of central nervous system malformations, renal dysplasia and hepatic ductal plate malformation. Based on the occurrence of a cerebellar Dandy-Walker malformation (variant), the diagnosis of Goldston syndrome was proposed in the first case. The second sibling however, showed a typical Meckel syndrome with occipital encephalocele. Both cases had a cranium bifidum with two defects in the squamous part of the occipital bone. This observation confirms that Goldston syndrome is not a distinct entity but merely a variant of Meckel syndrome, and that a cerebellar Dandy-Walker malformation can be a component of Meckel syndrome.

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Year:  1993        PMID: 8357569

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  4 in total

1.  Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

Authors:  Houda Karmous-Benailly; Jelena Martinovic; Marie-Claire Gubler; Yoann Sirot; Laure Clech; Catherine Ozilou; Joëlle Auge; Nora Brahimi; Heather Etchevers; Eric Detrait; Chantal Esculpavit; Sophie Audollent; Géraldine Goudefroye; Marie Gonzales; Julia Tantau; Philippe Loget; Madeleine Joubert; Dominique Gaillard; Corinne Jeanne-Pasquier; Anne-Lise Delezoide; Marie-Odile Peter; Ghislaine Plessis; Brigitte Simon-Bouy; Hélène Dollfus; Martine Le Merrer; Arnold Munnich; Férechté Encha-Razavi; Michel Vekemans; Tania Attié-Bitach
Journal:  Am J Hum Genet       Date:  2005-01-21       Impact factor: 11.025

2.  The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

Authors:  Lekbir Baala; Stephane Romano; Rana Khaddour; Sophie Saunier; Ursula M Smith; Sophie Audollent; Catherine Ozilou; Laurence Faivre; Nicole Laurent; Bernard Foliguet; Arnold Munnich; Stanislas Lyonnet; Remi Salomon; Ferechte Encha-Razavi; Marie-Claire Gubler; Nathalie Boddaert; Pascale de Lonlay; Colin A Johnson; Michel Vekemans; Corinne Antignac; Tania Attie-Bitach
Journal:  Am J Hum Genet       Date:  2006-11-15       Impact factor: 11.025

Review 3.  Meckel syndrome.

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

4.  Meckel-Gruber syndrome: Report of two cases.

Authors:  C Panduranga; Ranjit Kangle; Rajshree Badami; Prakash V Patil
Journal:  J Neurosci Rural Pract       Date:  2012-01
  4 in total

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