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...
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| Format: | Online |
| Language: | English |
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Medknow Publications & Media Pvt Ltd
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4943129/ |
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pubmed-49431292016-07-22 Split-hand/feet malformation: A rare syndrome Gane, Bahubali D. Natarajan, P. 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. |
| repository_type |
Open Access Journal |
| institution_category |
Foreign Institution |
| institution |
US National Center for Biotechnology Information |
| building |
NCBI PubMed |
| collection |
Online Access |
| language |
English |
| format |
Online |
| author |
Gane, Bahubali D. Natarajan, P. |
| spellingShingle |
Gane, Bahubali D. Natarajan, P. Split-hand/feet malformation: A rare syndrome |
| author_facet |
Gane, Bahubali D. Natarajan, P. |
| author_sort |
Gane, Bahubali D. |
| title |
Split-hand/feet malformation: A rare syndrome |
| title_short |
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_sort |
split-hand/feet malformation: a rare syndrome |
| 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. |
| publisher |
Medknow Publications & Media Pvt Ltd |
| publishDate |
2016 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4943129/ |
| _version_ |
1613608458903355392 |