Autosomal recessive split-hand/split-foot malformation
Split-hand/split-foot malformation (SHFM), a congenital limb malformation, occurs due to the absence of the central rays of autopod that results in a deep median cleft of the hand and/or foot. It is also known as ectrodactyly or lobster claw hand. Although SHFM is mostly autosomal dominant, there ar...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2016-01-01
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| Series: | Journal of Mahatma Gandhi Institute of Medical Sciences |
| Subjects: | |
| Online Access: | http://www.jmgims.co.in/article.asp?issn=0971-9903;year=2016;volume=21;issue=1;spage=72;epage=74;aulast=Mondal |
| _version_ | 1819240939603886080 |
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| author | Monojit Mondal Biswajit Biswas Kaustav Nayek Asok Kumar Datta |
| author_facet | Monojit Mondal Biswajit Biswas Kaustav Nayek Asok Kumar Datta |
| author_sort | Monojit Mondal |
| collection | DOAJ |
| description | Split-hand/split-foot malformation (SHFM), a congenital limb malformation, occurs due to the absence of the central rays of autopod that results in a deep median cleft of the hand and/or foot. It is also known as ectrodactyly or lobster claw hand. Although SHFM is mostly autosomal dominant, there are isolated case reports which indicate that it can be autosomal recessive. We are reporting a case of ectrodactyly with autosomal recessive mode of inheritance. |
| first_indexed | 2024-12-23T14:15:59Z |
| format | Article |
| id | doaj.art-709f8a0fd02340c7808311087347f88e |
| institution | Directory Open Access Journal |
| issn | 0971-9903 |
| language | English |
| last_indexed | 2024-12-23T14:15:59Z |
| publishDate | 2016-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Mahatma Gandhi Institute of Medical Sciences |
| spelling | doaj.art-709f8a0fd02340c7808311087347f88e2022-12-21T17:43:54ZengWolters Kluwer Medknow PublicationsJournal of Mahatma Gandhi Institute of Medical Sciences0971-99032016-01-01211727410.4103/0971-9903.178126Autosomal recessive split-hand/split-foot malformationMonojit MondalBiswajit BiswasKaustav NayekAsok Kumar DattaSplit-hand/split-foot malformation (SHFM), a congenital limb malformation, occurs due to the absence of the central rays of autopod that results in a deep median cleft of the hand and/or foot. It is also known as ectrodactyly or lobster claw hand. Although SHFM is mostly autosomal dominant, there are isolated case reports which indicate that it can be autosomal recessive. We are reporting a case of ectrodactyly with autosomal recessive mode of inheritance.http://www.jmgims.co.in/article.asp?issn=0971-9903;year=2016;volume=21;issue=1;spage=72;epage=74;aulast=MondalAutosomal recessiveectrodactylysplit-hand/split-foot malformation |
| spellingShingle | Monojit Mondal Biswajit Biswas Kaustav Nayek Asok Kumar Datta Autosomal recessive split-hand/split-foot malformation Journal of Mahatma Gandhi Institute of Medical Sciences Autosomal recessive ectrodactyly split-hand/split-foot malformation |
| title | Autosomal recessive split-hand/split-foot malformation |
| title_full | Autosomal recessive split-hand/split-foot malformation |
| title_fullStr | Autosomal recessive split-hand/split-foot malformation |
| title_full_unstemmed | Autosomal recessive split-hand/split-foot malformation |
| title_short | Autosomal recessive split-hand/split-foot malformation |
| title_sort | autosomal recessive split hand split foot malformation |
| topic | Autosomal recessive ectrodactyly split-hand/split-foot malformation |
| url | http://www.jmgims.co.in/article.asp?issn=0971-9903;year=2016;volume=21;issue=1;spage=72;epage=74;aulast=Mondal |
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