Literature DB >> 8042663

Familial crossed polysyndactyly.

D J Goldstein1, M Kambouris, R E Ward.   

Abstract

We have observed a distinct form of "crossed" polysyndactyly in 6 generations of a family with 5 affected persons, all males. The polydactyly is postaxial in the hands and preaxial in the feet. Syndactyly in the hands is observed in some relatives, while syndactyly in the feet is present bilaterally in all affected relatives. This seems to be an autosomal dominant trait with male to male transmission over 3 generations by examination and an additional 3 generations by history. This form of polysyndactyly could not be readily categorized by the existing classification by Temtamy and McKusick [1978: BD OAS XIV 6:363-392]. We review and expand the present classification of polydactyly and syndactyly syndromes.

Entities:  

Mesh:

Year:  1994        PMID: 8042663     DOI: 10.1002/ajmg.1320500302

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


  4 in total

Review 1.  Syndactyly: phenotypes, genetics and current classification.

Authors:  Sajid Malik
Journal:  Eur J Hum Genet       Date:  2012-02-15       Impact factor: 4.246

2.  Familial crossed polysyndactyly in four generations of an Indian family.

Authors:  Pooja Dewan; Nitin Agarwal; Preeti Dewan; Vineet Batta
Journal:  World J Pediatr       Date:  2010-02-01       Impact factor: 2.764

3.  Role of Epiprofin, a zinc-finger transcription factor, in limb development.

Authors:  Ana Talamillo; Irene Delgado; Takashi Nakamura; Susana de-Vega; Yasuo Yoshitomi; Fernando Unda; Walter Birchmeier; Yoshihiko Yamada; Maria A Ros
Journal:  Dev Biol       Date:  2009-11-10       Impact factor: 3.582

4.  The epidemiology, genetics and future management of syndactyly.

Authors:  D Jordan; S Hindocha; M Dhital; M Saleh; W Khan
Journal:  Open Orthop J       Date:  2012-03-23
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.