Literature DB >> 11146470

Occurrence of Dandy-Walker anomaly in a familial case of distal arthogryposis type IIB.

R Pallotta1, T Ehresmann, P Fusilli.   

Abstract

We present a family affected with distal arthrogryposis type IIB (DA IIB) in three generations. The coincidental finding of Dandy-Walker anomaly in the proposita arouses the question whether Dandy-Walker anomaly is part of the DA IIB spectrum or whether the Aase-Smith syndrome belongs to the DA spectrum. Copyright 2000 Wiley-Liss, Inc.

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Mesh：

Year:  2000        PMID： 11146470     DOI： 10.1002/1096-8628(20001218)95:5<477::aid-ajmg13>3.0.co;2-m

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


  4 in total

Review 1.  Arthrogryposis: a review and update.

Authors:  Michael Bamshad; Ann E Van Heest; David Pleasure
Journal:  J Bone Joint Surg Am       Date:  2009-07       Impact factor: 5.284

Review 2.  Arthrogryposis multiplex congenita: classification, diagnosis, perioperative care, and anesthesia.

Authors:  Lulu Ma; Xuerong Yu
Journal:  Front Med       Date:  2017-03-02       Impact factor: 4.592

3.  Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Authors:  Margaret J McMillin; Anita E Beck; Jessica X Chong; Kathryn M Shively; Kati J Buckingham; Heidi I S Gildersleeve; Mariana I Aracena; Arthur S Aylsworth; Pierre Bitoun; John C Carey; Carol L Clericuzio; Yanick J Crow; Cynthia J Curry; Koenraad Devriendt; David B Everman; Alan Fryer; Kate Gibson; Maria Luisa Giovannucci Uzielli; John M Graham; Judith G Hall; Jacqueline T Hecht; Randall A Heidenreich; Jane A Hurst; Sarosh Irani; Ingrid P C Krapels; Jules G Leroy; David Mowat; Gordon T Plant; Stephen P Robertson; Elizabeth K Schorry; Richard H Scott; Laurie H Seaver; Elliott Sherr; Miranda Splitt; Helen Stewart; Constance Stumpel; Sehime G Temel; David D Weaver; Margo Whiteford; Marc S Williams; Holly K Tabor; Joshua D Smith; Jay Shendure; Deborah A Nickerson; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2014-04-10       Impact factor: 11.025

4.  Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene.

Authors:  Gregorio Serra; Vincenzo Antona; Chiara Cannata; Mario Giuffrè; Ettore Piro; Ingrid Anne Mandy Schierz; Giovanni Corsello
Journal:  Ital J Pediatr       Date:  2022-07-29       Impact factor: 3.288
  4 in total

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