Literature DB >> 20717165

Type II familial synpolydactyly: report on two families with an emphasis on variations of expression.

Mohammad M Al-Qattan1.   

Abstract

Type II familial synpolydactyly is rare and is known to have variable expression. However, no previous papers have attempted to review these variations. The aim of this paper was to review these variations and show several of these variable expressions in two families. The classic features of type II familial synpolydactyly are bilateral synpolydactyly of the third web spaces of the hands and bilateral synpolydactyly of the fourth web spaces of the feet. Several members of the two families reported in this paper showed the following variations: the third web spaces of the hands showing syndactyly without the polydactyly, normal feet, concurrent polydactyly of the little finger, concurrent clinodactyly of the little finger and the 'homozygous' phenotype. It was concluded that variable expressions of type II familial synpolydactyly are common and awareness of such variations is important to clinicians.

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Year:  2010        PMID: 20717165      PMCID: PMC3039497          DOI: 10.1038/ejhg.2010.127

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


  10 in total

1.  HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg.

Authors:  Klaus Wilbrandt Kjaer; Jess Hedeboe; Merete Bugge; Claus Hansen; Karen Friis-Henriksen; Maria Baeksted Vestergaard; Niels Tommerup; John M Opitz
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Journal:  Science       Date:  1996-04-26       Impact factor: 47.728

4.  A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data.

Authors:  B S Sayli; A N Akarsu; U Sayli; O Akhan; S Ceylaner; M Sarfarazi
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318

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Journal:  J Med Genet       Date:  1986-06       Impact factor: 6.318

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Journal:  Clin Genet       Date:  1977-10       Impact factor: 4.438

7.  Synpolydactyly (type II syndactyly) with aplasia/hypoplasia of the middle phalanges of the toes: report on a family with eight affected members in four generations.

Authors:  G Camera; A Camera; S Pozzolo; M Costa; R Mantero
Journal:  Am J Med Genet       Date:  1995-01-16

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Authors:  L De Smet; G Fabry
Journal:  Acta Orthop Belg       Date:  1992       Impact factor: 0.500

9.  Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker.

Authors:  M Sarfarazi; A N Akarsu; B S Sayli
Journal:  Hum Mol Genet       Date:  1995-08       Impact factor: 6.150

10.  A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?

Authors:  A N Akarsu; O Akhan; B S Sayli; U Sayli; G Baskaya; M Sarfarazi
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318

  10 in total
  4 in total

Review 1.  A Review of the Phenotype of Synpolydactyly Type 1 in Homozygous Patients: Defining the Relatively Long and Medially Deviated Big Toe with/without Cupping of the Forefoot as a Pathognomonic Feature in the Phenotype.

Authors:  Mohammad M Al-Qattan
Journal:  Biomed Res Int       Date:  2020-05-15       Impact factor: 3.411

Review 2.  A Review of the Genetics and Pathogenesis of Syndactyly in Humans and Experimental Animals: A 3-Step Pathway of Pathogenesis.

Authors:  Mohammad M Al-Qattan
Journal:  Biomed Res Int       Date:  2019-09-15       Impact factor: 3.411

3.  Functional classification and mutation analysis of a synpolydactyly kindred.

Authors:  Jianda Zhou; Yao Chen; Ke Cao; Yonghua Zou; Haiyan Zhou; Feng Hu; Bin Ni; Yong Chen
Journal:  Exp Ther Med       Date:  2014-09-11       Impact factor: 2.447

4.  Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?

Authors:  Martijn Baas; Jacob W P Potuijt; Steven E R Hovius; A Jeannette M Hoogeboom; Robert-Jan H Galjaard; Christianne A van Nieuwenhoven
Journal:  Am J Med Genet A       Date:  2017-09-10       Impact factor: 2.802

  4 in total

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