Literature DB >> 2837505

A family with complex bilateral polysyndacty.

J P Nicolai1, B C Hamel.   

Abstract

A six-generation family with 88 members is described. A curious combination of polydactyly, syndactyly, and triphalangeal malformed thumbs affected about 30% of the members. It is believed that this congenital hand deformity only occurs in an hereditary form.

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Mesh：

Year:  1988        PMID： 2837505     DOI： 10.1016/s0363-5023(88)80019-4

Source DB:  PubMed          Journal:  J Hand Surg Am        ISSN： 0363-5023            Impact factor:   2.230


  4 in total

1.  The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions.

Authors:  Jacob W P Potuijt; Anna Sowinska-Seidler; Ewelina Bukowska-Olech; Picard Nguyen; Aleksander Jankowski; Frank Magielsen; Karolina Matuszewska; Christianne A van Nieuwenhoven; Robert-Jan H Galjaard; Annelies de Klein; Aleksander Jamsheer
Journal:  Mol Genet Genomics       Date:  2022-07-11       Impact factor: 2.980

2.  Phenotypic analysis of triphalangeal thumb and associated hand malformations.

Authors:  J Zguricas; P J Snijders; S E Hovius; P Heutink; B A Oostra; D Lindhout
Journal:  J Med Genet       Date:  1994-06       Impact factor: 6.318

3.  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.  A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.

Authors:  Anna Zlotina; Olesia Melnik; Yulia Fomicheva; Rostislav Skitchenko; Alexey Sergushichev; Elena Shagimardanova; Oleg Gusev; Guzel Gazizova; Tatiana Loevets; Tatiana Vershinina; Ivan Kozyrev; Mikhail Gordeev; Elena Vasichkina; Tatiana Pervunina; Anna Kostareva
Journal:  BMC Med Genomics       Date:  2020-11-20       Impact factor: 3.063
  4 in total

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