Surya Vijay Singh, Gyanendra Puri, Anisha Elizabeth Gemmy
{"title":"家族性双侧手足裂畸形的罕见表现:两代人的故事。","authors":"Surya Vijay Singh, Gyanendra Puri, Anisha Elizabeth Gemmy","doi":"10.12865/CHSJ.48.03.16","DOIUrl":null,"url":null,"abstract":"<p><p>Split-hand/foot malformation (SHFM), also called as ectrodactyly. SHFM is a natural limb deformity, characterized by a deep standard split of the hand and/ or foot due to the absence of the central shafts. SHFM may happen as a separate existent or as part of a syndrome. Both forms are constantly established in association with chromosomal rearrangements resemblant to translocations or deletion. It is clinically and genetically diverse and shows substantially autosomal dominant heritage with variable expressivity and reduced penetrance. Cases presenting with SHFM features should be rigorously diagnosed, clinically examined, and submitted to pertinent cytogenetic and/ or molecular testing. We presented two months old male child and his paternal grandmother with SHFM.</p>","PeriodicalId":10938,"journal":{"name":"Current Health Sciences Journal","volume":"48 3","pages":"356-359"},"PeriodicalIF":0.0000,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/44/11/CHSJ-48-03-356.PMC9940929.pdf","citationCount":"0","resultStr":"{\"title\":\"An Unusual Presentation of Bilateral Split Hand-Foot Malformation (SHFM) in Family: A Tale of Two Generations.\",\"authors\":\"Surya Vijay Singh, Gyanendra Puri, Anisha Elizabeth Gemmy\",\"doi\":\"10.12865/CHSJ.48.03.16\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Split-hand/foot malformation (SHFM), also called as ectrodactyly. SHFM is a natural limb deformity, characterized by a deep standard split of the hand and/ or foot due to the absence of the central shafts. SHFM may happen as a separate existent or as part of a syndrome. Both forms are constantly established in association with chromosomal rearrangements resemblant to translocations or deletion. It is clinically and genetically diverse and shows substantially autosomal dominant heritage with variable expressivity and reduced penetrance. Cases presenting with SHFM features should be rigorously diagnosed, clinically examined, and submitted to pertinent cytogenetic and/ or molecular testing. We presented two months old male child and his paternal grandmother with SHFM.</p>\",\"PeriodicalId\":10938,\"journal\":{\"name\":\"Current Health Sciences Journal\",\"volume\":\"48 3\",\"pages\":\"356-359\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/44/11/CHSJ-48-03-356.PMC9940929.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Current Health Sciences Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.12865/CHSJ.48.03.16\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2022/9/30 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Health Sciences Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.12865/CHSJ.48.03.16","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/9/30 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
An Unusual Presentation of Bilateral Split Hand-Foot Malformation (SHFM) in Family: A Tale of Two Generations.
Split-hand/foot malformation (SHFM), also called as ectrodactyly. SHFM is a natural limb deformity, characterized by a deep standard split of the hand and/ or foot due to the absence of the central shafts. SHFM may happen as a separate existent or as part of a syndrome. Both forms are constantly established in association with chromosomal rearrangements resemblant to translocations or deletion. It is clinically and genetically diverse and shows substantially autosomal dominant heritage with variable expressivity and reduced penetrance. Cases presenting with SHFM features should be rigorously diagnosed, clinically examined, and submitted to pertinent cytogenetic and/ or molecular testing. We presented two months old male child and his paternal grandmother with SHFM.