Literature DB >> 2596509

Dandy-Walker malformation with postaxial polydactyly: a new syndrome?

G Pierquin1, J Deroover, S Levi, T Masson, F Hayez-Delatte, N Van Regemorter.   

Abstract

We report on two sibs with Dandy-Walker malformation and tetramelic postaxial polydactyly. We conclude that this is a new autosomal recessive syndrome.

Entities:  

Mesh：

Year:  1989        PMID： 2596509     DOI： 10.1002/ajmg.1320330414

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


  3 in total

1.  Joubert syndrome with polydactyly and optic coloboma in two sibs.

Authors:  A S Kher; A Chattopadhyay; A Divekar; K Khambekar; B A Bharucha
Journal:  Indian J Pediatr       Date:  1994 Nov-Dec       Impact factor: 1.967

2.  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

3.  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
  3 in total

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