Literature DB >> 16283879

Split hand foot malformation (SHFM).

A M Elliott1, J A Evans, A E Chudley.   

Abstract

The nomenclature describing the phenotype of missing central rays in the hand and/or foot in the genetics and surgical literature is heterogeneous and confusing. Split hand/foot malformation (SHFM) is the most common term for this phenotype in the genetics community; however, other names such as the offensive 'lobster-claw malformation' and the non-specific 'ectrodactyly' are still utilized to describe this malformation. In this article, we briefly review the nomenclature associated with SHFM and its classifications.

Entities:  

Mesh：

Year:  2005        PMID： 16283879     DOI： 10.1111/j.1399-0004.2005.00530.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  16 in total

1.  Prenatal diagnosis of limb abnormalities: role of fetal ultrasonography.

Authors:  Santina Ermito; Angela Dinatale; Sabina Carrara; Alessandro Cavaliere; Laura Imbruglia; Stefania Recupero
Journal:  J Prenat Med       Date:  2009-04

2.  Duplication of 10q24 locus: broadening the clinical and radiological spectrum.

Authors:  Muriel Holder-Espinasse; Aleksander Jamsheer; Fabienne Escande; Joris Andrieux; Florence Petit; Anna Sowinska-Seidler; Magdalena Socha; Anna Jakubiuk-Tomaszuk; Marion Gerard; Michèle Mathieu-Dramard; Valérie Cormier-Daire; Alain Verloes; Annick Toutain; Ghislaine Plessis; Philippe Jonveaux; Clarisse Baumann; Albert David; Chantal Farra; Estelle Colin; Sébastien Jacquemont; Annick Rossi; Sahar Mansour; Neeti Ghali; Anne Moncla; Nayana Lahiri; Jane Hurst; Elena Pollina; Christine Patch; Joo Wook Ahn; Anne-Sylvie Valat; Aurélie Mezel; Philippe Bourgeot; David Zhang; Sylvie Manouvrier-Hanu
Journal:  Eur J Hum Genet       Date:  2019-01-08       Impact factor: 4.246

Review 3.  [Malformations of the lower extremities].

Authors:  F Hefti
Journal:  Orthopade       Date:  2008-04       Impact factor: 1.087

4.  The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1.

Authors:  L A Lansdon; H V Bernabe; N Nidey; J Standley; M J Schnieders; J C Murray
Journal:  J Dent Res       Date:  2017-08-21       Impact factor: 6.116

5.  Familial ectrodactyly syndrome in a nigerian child: a case report.

Authors:  Mathew Durowaye; Muhammed Adeboye; Sefiyah Yahaya-Kongoila; Adeline Adaje; Omotayo Adesiyun; Samuel Kolade Ernest; Olugbenga Ayodeji Mokuolu; Abdulrasheed Adegboye
Journal:  Oman Med J       Date:  2011-07

6.  4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation.

Authors:  Dunja Niedrist; Iosif W Lurie; Albert Schinzel
Journal:  Eur J Hum Genet       Date:  2009-02-18       Impact factor: 4.246

7.  Cleft foot: A case report and review of literature.

Authors:  Sergey S Leonchuk; Andrey S Neretin; Anthony J Blanchard
Journal:  World J Orthop       Date:  2020-02-18

8.  Dlx5 Homeodomain:DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome.

Authors:  Andrew Proudfoot; Herbert L Axelrod; Michael Geralt; Robert J Fletterick; Fumiaki Yumoto; Ashley M Deacon; Marc-André Elsliger; Ian A Wilson; Kurt Wüthrich; Pedro Serrano
Journal:  J Mol Biol       Date:  2016-01-29       Impact factor: 5.469

9.  A Japanese male patient with 'fibular aplasia, tibial campomelia and oligodactyly': an additional case report.

Authors:  Taichi Kitaoka; Noriyuki Namba; Ji Yoo Kim; Takuo Kubota; Kohji Miura; Yoko Miyoshi; Haruhiko Hirai; Mikihiko Kogo; Keiichi Ozono
Journal:  Clin Pediatr Endocrinol       Date:  2009-08-01

10.  The novel ubiquitin ligase complex, SCF(Fbxw4), interacts with the COP9 signalosome in an F-box dependent manner, is mutated, lost and under-expressed in human cancers.

Authors:  William W Lockwood; Sahiba K Chandel; Greg L Stewart; Hediye Erdjument-Bromage; Levi J Beverly
Journal:  PLoS One       Date:  2013-05-02       Impact factor: 3.240
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