{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,2]],"date-time":"2026-08-02T16:27:09Z","timestamp":1785688029987,"version":"3.56.0"},"reference-count":6,"publisher":"Oxford University Press (OUP)","issue":"11","license":[{"start":{"date-parts":[[2024,11,20]],"date-time":"2024-11-20T00:00:00Z","timestamp":1732060800000},"content-version":"vor","delay-in-days":19,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic disorder that affects cholesterol synthesis and causes various physical and mental abnormalities. The case is a 25-day-old male infant who presented with multiple congenital anomalies, such as microcephaly, facial dysmorphism, syndactyly, hypospadias, and other organ malformations. He also had severe vomiting, feeding difficulty, irritability, dehydration, and hyponatremia. Laboratory tests showed low serum cholesterol, in addition to genetic tests, confirming the diagnosis of SLOS. The infant was treated with simvastatin, which improved his irritability and was well tolerated. The paper discusses the clinical features, diagnosis, and management of SLOS, and highlights the importance of early recognition and intervention for this rare case. It is also considered the first documented case in Syria.<\/jats:p>","DOI":"10.1093\/omcr\/omae129","type":"journal-article","created":{"date-parts":[[2024,11,20]],"date-time":"2024-11-20T08:37:22Z","timestamp":1732091842000},"source":"Crossref","is-referenced-by-count":2,"title":["First documented case of Smith-Lemli-Opitz syndrome in Syria: clinical presentation, diagnosis, and experimental management with simvastatin"],"prefix":"10.1093","volume":"2024","author":[{"given":"Alwa Hussien","family":"Aladia","sequence":"first","affiliation":[{"name":"Damascus University Department of Pediatric, Children University Hospital, Faculty of Medicine, , Damascus,","place":["Syria"]},{"name":"Syrian Mouasat Association Hospital Department of Pediatric, , Damascus,","place":["Syria"]},{"name":"Al- Baath University Faculty of Medicine, , Homs,","place":["Syria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samar","family":"Hamdan","sequence":"additional","affiliation":[{"name":"Damascus University Department of Pediatric, Children University Hospital, Faculty of Medicine, , Damascus,","place":["Syria"]},{"name":"Tishreen University Faculty of Medicine, , Lattakia,","place":["Syria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6479-8547","authenticated-orcid":false,"given":"Ahmad","family":"Alkheder","sequence":"additional","affiliation":[{"name":"Damascus University Department of Otorhinolaryngology, Al Mouwasat University Hospital, Faculty of Medicine, , Damascus,","place":["Syria"]},{"name":"Syrian Private University Faculty of Medicine, , Damascus,","place":["Syria"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,11,20]]},"reference":[{"key":"2024112007573243200_ref1","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/S0022-3476(64)80264-X","article-title":"A newly recognized syndrome of multiple congenital anomalies","volume":"64","author":"Smith","year":"1964","journal-title":"J Pediatr"},{"key":"2024112007573243200_ref2","volume-title":"Smith's recognizable patterns of human Malformation","author":"Jones","year":"2005","edition":"6th"},{"key":"2024112007573243200_ref4","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/j.ymgme.2004.12.009","article-title":"Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts","volume":"85","author":"Wassif","year":"2005","journal-title":"Mol Genet Metab"},{"key":"2024112007573243200_ref3","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1194\/jlr.R009548","article-title":"Malformation syndromes caused by disorders of cholesterol synthesis","volume":"52","author":"Porter","year":"2011","journal-title":"J Lipid Res"},{"key":"2024112007573243200_ref5","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1002\/ajmg.c.31347","article-title":"Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders","volume":"160C","author":"Svoboda","year":"2012","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"2024112007573243200_ref6","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1038\/gim.2016.102","article-title":"A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome","volume":"19","author":"Wassif","year":"2017","journal-title":"Genet Med"}],"container-title":["Oxford Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/omcr\/article-pdf\/2024\/11\/omae129\/60762198\/omae129.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/omcr\/article-pdf\/2024\/11\/omae129\/60762198\/omae129.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,20]],"date-time":"2024-11-20T08:37:29Z","timestamp":1732091849000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/omcr\/article\/doi\/10.1093\/omcr\/omae129\/7900208"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,1]]},"references-count":6,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2024,11,1]]}},"URL":"https:\/\/doi.org\/10.1093\/omcr\/omae129","relation":{},"ISSN":["2053-8855"],"issn-type":[{"value":"2053-8855","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,11]]},"published":{"date-parts":[[2024,11,1]]},"article-number":"omae129"}}