{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T13:40:44Z","timestamp":1753882844524,"version":"3.41.2"},"reference-count":13,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["SAGE Open Medical Case Reports"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:p> Phocomelia is a rare congenital condition characterized by severe limb malformation, where the limbs are either partly or completely underdeveloped. Phocomelia can occur as a syndrome or as a limb-specific abnormality. The frequency of phocomelia ranges from 0.6 to 4.2 per 100,000 live births; hence, there are not many reports of this deformity. Genetic inheritance and the use of thalidomide are the two main etiological factors of phocomelia. Several symptoms and visceral abnormalities are associated with this condition. Ultrasonography is crucial for the early detection of phocomelia during the intrauterine stage. Presented here is a case of phocomelia in a 6-year-old boy who was diagnosed after birth, with no maternal history of thalidomide usage or family history of the same condition. This case is unique in that it involves a child born with phocomelia but no additional congenital defects observed in related syndromes. Because of that, we suggest this case may be isolated. <\/jats:p>","DOI":"10.1177\/2050313x241271868","type":"journal-article","created":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T07:41:46Z","timestamp":1723794106000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Non-syndromic phocomelia: A rare case report signifying prenatal screening"],"prefix":"10.1177","volume":"12","author":[{"given":"Shadi","family":"Abu Isneina","sequence":"first","affiliation":[{"name":"Department of Pediatric Orthopaedics, Princess Alia Governmental Hospital, Hebron, Palestine"},{"name":"Orthopaedics Department, Faculty of Medicine, Polytechnic University, Hebron, Palestine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-4635-2647","authenticated-orcid":false,"given":"Mayar","family":"Karaki","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Polytechnic University, Hebron, Palestine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rand","family":"Salah","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Polytechnic University, Hebron, Palestine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bayan","family":"Rasheed","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Polytechnic University, Hebron, Palestine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manar","family":"Atrash","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Polytechnic University, Hebron, Palestine"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2024,8,16]]},"reference":[{"key":"bibr1-2050313X241271868","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30320"},{"key":"bibr2-2050313X241271868","doi-asserted-by":"publisher","DOI":"10.21767\/2172-0479.100049"},{"volume-title":"Before we are born: essentials of embryology and birth defects","year":"2015","author":"Moore KL","key":"bibr3-2050313X241271868"},{"issue":"12","key":"bibr4-2050313X241271868","first-page":"2639","volume":"87","author":"Goldfarb CA","year":"2005","journal-title":"J Bone Jt Surg"},{"key":"bibr5-2050313X241271868","doi-asserted-by":"publisher","DOI":"10.53347\/rID-28346"},{"issue":"2","key":"bibr6-2050313X241271868","volume":"9","author":"Samal SK","year":"2015","journal-title":"J Clin Diagn Res"},{"key":"bibr7-2050313X241271868","first-page":"1","volume":"7","author":"Aboud M","year":"2022","journal-title":"Int J Med Rev Case Rep"},{"issue":"48","key":"bibr8-2050313X241271868","first-page":"1397","volume":"45","author":"van der Horst RL","year":"1971","journal-title":"S Afr Med J"},{"key":"bibr9-2050313X241271868","doi-asserted-by":"publisher","DOI":"10.17352\/2455-5282.000066"},{"issue":"1","key":"bibr10-2050313X241271868","first-page":"1","volume":"1","author":"Sessions W","year":"2018","journal-title":"J Birth Defects"},{"key":"bibr11-2050313X241271868","first-page":"150","volume":"1","author":"Chakre GS","year":"2012","journal-title":"JKIMSU"},{"key":"bibr12-2050313X241271868","doi-asserted-by":"publisher","DOI":"10.31729\/jnma.7486"},{"key":"bibr13-2050313X241271868","doi-asserted-by":"publisher","DOI":"10.31080\/ASPE.2022.05.561"}],"container-title":["SAGE Open Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X241271868","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2050313X241271868","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X241271868","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,1]],"date-time":"2025-03-01T05:50:03Z","timestamp":1740808203000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2050313X241271868"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1]]},"references-count":13,"alternative-id":["10.1177\/2050313X241271868"],"URL":"https:\/\/doi.org\/10.1177\/2050313x241271868","relation":{},"ISSN":["2050-313X","2050-313X"],"issn-type":[{"type":"print","value":"2050-313X"},{"type":"electronic","value":"2050-313X"}],"subject":[],"published":{"date-parts":[[2024,1]]},"article-number":"2050313X241271868"}}