{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T06:17:04Z","timestamp":1782886624494,"version":"3.54.5"},"reference-count":7,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T00:00:00Z","timestamp":1782777600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T00:00:00Z","timestamp":1782777600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Clinical Ultrasound"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Alkuraya\u2010Ku\u010dinskas syndrome (AKS) is a rare autosomal recessive disorder characterized by severe brain malformations, arthrogryposis, and multiple system abnormalities. We present a case of recurrent AKS in a 24\u2010year\u2010old woman with consanguineous marriage history who previously had one pregnancy terminated due to AKS. First\u2010trimester ultrasound revealed cystic hygroma and limb contractures. Chorionic villus sampling (CVS) confirmed homozygosity for the\n                    <jats:italic>BLTP1<\/jats:italic>\n                    gene variant c.13042C&gt;T p.(Arg4348Ter), consistent with AKS. After genetic counseling, the pregnancy was terminated; postmortem examination and genetic analysis of fetal tissue reconfirmed the diagnosis. This case highlights the importance of early prenatal diagnosis in recurrent genetic disorders, demonstrates the ultrasonographic features enabling first\u2010trimester detection, and underscores the value of comprehensive preconception genetic counseling in consanguineous families with a history of genetic disorders.\n                  <\/jats:p>","DOI":"10.1002\/jcu.70315","type":"journal-article","created":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T04:55:32Z","timestamp":1782881732000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal Diagnosis of Recurrent Alkuraya\u2010Ku\u010dinskas Syndrome: A Rare Case Report"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8450-6142","authenticated-orcid":false,"given":"Meltem","family":"Caliskan","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Haseki Training and Research Hospital, University of Health Sciences  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fulya Sultan","family":"Karaduman","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Haseki Training and Research Hospital, University of Health Sciences  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ece","family":"Keskin","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Haseki Training and Research Hospital, University of Health Sciences  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2215-1198","authenticated-orcid":false,"given":"Ozan","family":"Karadeniz","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Cam and Sakura City Hospital  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filiz Yarsilikal","family":"Guleroglu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Haseki Training and Research Hospital, University of Health Sciences  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,30]]},"reference":[{"issue":"2","key":"e_1_2_10_2_1","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.celrep.2014.12.015","article-title":"Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole\u2010Exome Sequencing of Prescreened Multiplex Consanguineous Families","volume":"10","author":"Alazami A. M.","year":"2015","journal-title":"Cell Reports"},{"issue":"11","key":"e_1_2_10_3_1","doi-asserted-by":"crossref","first-page":"7133","DOI":"10.1007\/s11033-014-3596-5","article-title":"Autoimmune Diseases Association Study With the KIAA1109\u2013IL2\u2013IL21 Region in a Tunisian Population","volume":"41","author":"Bouzid D.","year":"2014","journal-title":"Molecular Biology Reports"},{"issue":"1","key":"e_1_2_10_4_1","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.ajhg.2017.12.002","article-title":"KIAA1109 Variants Are Associated With a Severe Disorder of Brain Development and Arthrogryposis","volume":"102","author":"Gueneau L.","year":"2018","journal-title":"American Journal of Human Genetics"},{"issue":"1","key":"e_1_2_10_5_1","doi-asserted-by":"crossref","DOI":"10.1186\/s12881-020-01074-2","article-title":"KIAA1109 Gene Mutation in Surviving Patients With Alkuraya\u2010Ku\u010dinskas Syndrome: A Review of Literature","volume":"21","author":"Kumar K.","year":"2020","journal-title":"BMC Medical Genetics"},{"key":"e_1_2_10_6_1","unstructured":"Online Mendelian Inheritance in Man (OMIM).2024.\u201cBridge\u2010Like Lipid Transfer Protein Family Member 1; BLTP1.\u201dhttps:\/\/www.omim.org\/entry\/611565#1."},{"key":"e_1_2_10_7_1","doi-asserted-by":"crossref","DOI":"10.1177\/25152564231186489","article-title":"Bridge\u2010Like Lipid Transfer Proteins (BLTPs) in \n                     C. elegans\n                  : From Genetics to Structures and Functions","volume":"6","author":"Pandey T.","year":"2023","journal-title":"Contact"},{"issue":"11","key":"e_1_2_10_8_1","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1002\/pd.6637","article-title":"Prenatal Phenotype of Alkuraya\u2010Ku\u010dinskas Syndrome: A Novel Case and Systematic Literature Review","volume":"44","author":"Rice S. M.","year":"2024","journal-title":"Prenatal Diagnosis"}],"container-title":["Journal of Clinical Ultrasound"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcu.70315","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jcu.70315","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcu.70315","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T04:55:42Z","timestamp":1782881742000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcu.70315"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,30]]},"references-count":7,"alternative-id":["10.1002\/jcu.70315"],"URL":"https:\/\/doi.org\/10.1002\/jcu.70315","archive":["Portico"],"relation":{},"ISSN":["0091-2751","1097-0096"],"issn-type":[{"value":"0091-2751","type":"print"},{"value":"1097-0096","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,30]]},"assertion":[{"value":"2025-07-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-19","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-30","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"jcu.70315"}}