Cargando…

Split-hand/feet malformation: A rare syndrome

Split-hand/split-foot malformation (SHFM) is mainly inherited as an autosomal dominant trait with incomplete penetrance and characterized by malformation of the limb involving the central rays of the autopod. It presents with a deep median cleft of the hand and/or foot, aplasia/hypoplasia of the pha...

Descripción completa

Detalles Bibliográficos
Autores principales: Gane, Bahubali D., Natarajan, P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4943129/
https://www.ncbi.nlm.nih.gov/pubmed/27453866
http://dx.doi.org/10.4103/2249-4863.184656
_version_ 1782442539228332032
author Gane, Bahubali D.
Natarajan, P.
author_facet Gane, Bahubali D.
Natarajan, P.
author_sort Gane, Bahubali D.
collection PubMed
description Split-hand/split-foot malformation (SHFM) is mainly inherited as an autosomal dominant trait with incomplete penetrance and characterized by malformation of the limb involving the central rays of the autopod. It presents with a deep median cleft of the hand and/or foot, aplasia/hypoplasia of the phalanges, metacarpals, and metatarsals. Pathogenic mechanism is a failure to maintain signaling from the median apical ectodermal ridge. Without this signaling, cells of the underlying progress zone stop proliferation and differentiation which in turn results in defects of the central rays. We describe a case of SHFM in 10-year-old boy.
format Online
Article
Text
id pubmed-4943129
institution National Center for Biotechnology Information
language English
publishDate 2016
publisher Medknow Publications & Media Pvt Ltd
record_format MEDLINE/PubMed
spelling pubmed-49431292016-07-22 Split-hand/feet malformation: A rare syndrome Gane, Bahubali D. Natarajan, P. J Family Med Prim Care Case Report Split-hand/split-foot malformation (SHFM) is mainly inherited as an autosomal dominant trait with incomplete penetrance and characterized by malformation of the limb involving the central rays of the autopod. It presents with a deep median cleft of the hand and/or foot, aplasia/hypoplasia of the phalanges, metacarpals, and metatarsals. Pathogenic mechanism is a failure to maintain signaling from the median apical ectodermal ridge. Without this signaling, cells of the underlying progress zone stop proliferation and differentiation which in turn results in defects of the central rays. We describe a case of SHFM in 10-year-old boy. Medknow Publications & Media Pvt Ltd 2016 /pmc/articles/PMC4943129/ /pubmed/27453866 http://dx.doi.org/10.4103/2249-4863.184656 Text en Copyright: © Journal of Family Medicine and Primary Care http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Case Report
Gane, Bahubali D.
Natarajan, P.
Split-hand/feet malformation: A rare syndrome
title Split-hand/feet malformation: A rare syndrome
title_full Split-hand/feet malformation: A rare syndrome
title_fullStr Split-hand/feet malformation: A rare syndrome
title_full_unstemmed Split-hand/feet malformation: A rare syndrome
title_short Split-hand/feet malformation: A rare syndrome
title_sort split-hand/feet malformation: a rare syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4943129/
https://www.ncbi.nlm.nih.gov/pubmed/27453866
http://dx.doi.org/10.4103/2249-4863.184656
work_keys_str_mv AT ganebahubalid splithandfeetmalformationararesyndrome
AT natarajanp splithandfeetmalformationararesyndrome