Literature DB >> 458832

Camptodactyly, cleft palate, and club foot (the Gordon syndrome). A report of a large pedigree.

F Halal, F C Fraser.   

Abstract

A second family is described in which camptodactyly, club foot, and cleft palate (the Gordon syndrome) is transmitted in a pattern consistent with autosomal dominant inheritance with reduced penetrance and variable expressivity. Penetrance appears to be more reduced in females than in males, and cleft palate is the least frequently manifested trait.

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Year:  1979        PMID: 458832      PMCID: PMC1012741          DOI: 10.1136/jmg.16.2.149

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  1 in total

1.  Camptodactyly, cleft palate, and club foot. A syndrome showing the autosomal-dominant pattern of inheritance.

Authors:  H Gordon; D Davies; M Berman
Journal:  J Med Genet       Date:  1969-09       Impact factor: 6.318

  1 in total
  4 in total

1.  The Gordon syndrome.

Authors:  B Say; D H Barber; R C Thompson; L G Leichtman
Journal:  J Med Genet       Date:  1980-10       Impact factor: 6.318

2.  A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9.

Authors:  M Bamshad; W S Watkins; R K Zenger; J F Bohnsack; J C Carey; B Otterud; P A Krakowiak; M Robertson; L B Jorde
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

3.  A new form of autosomal dominant arthrogryposis.

Authors:  M M Lai; M A Tettenborn; J G Hall; L J Smith; A C Berry
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

4.  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 in total

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