{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,7]],"date-time":"2024-05-07T00:27:56Z","timestamp":1715041676589},"reference-count":6,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,3,30]],"date-time":"2024-03-30T00:00:00Z","timestamp":1711756800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Oculocerebrorenal syndrome (Lowe syndrome) is a rare X\u2010linked disorder affecting 1\/500,000 males that most frequently affects the eyes, central nervous system, and kidneys. Phenotypic presentation includes congenital cataracts, developmental delay, intellectual disability, and Fanconi\u2010type renal dysfunction. Lowe Syndrome is caused by hemizygous loss of function variants in the <jats:italic>OCRL<\/jats:italic> gene. While individuals may live into the third and fourth decade of life, some will die in the first few years of either renal failure or infection. While early diagnosis is important, few cases have documented the prenatal phenotype of this condition, which has included bilateral cataracts and variable neurological abnormalities. We report a case of a family with an extensive history of congenital cataracts, immune compromise, and neonatal death in male members. The fetus was found to have a unilateral cataract, mild ventriculomegaly, vertebral anomalies, and an underlying diagnosis of Lowe Syndrome with a mutation in <jats:italic>OCRL<\/jats:italic> at c.2582\u20101G&gt;C (IVS23\u20101G&gt;C).<\/jats:p>","DOI":"10.1002\/pd.6563","type":"journal-article","created":{"date-parts":[[2024,3,30]],"date-time":"2024-03-30T16:04:15Z","timestamp":1711814655000},"page":"665-668","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype"],"prefix":"10.1002","volume":"44","author":[{"given":"Natalie","family":"Burrill","sequence":"first","affiliation":[{"name":"Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nahla","family":"Khalek","sequence":"additional","affiliation":[{"name":"Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Surgery Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edward R.","family":"Oliver","sequence":"additional","affiliation":[{"name":"Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department Radiology Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Linn","sequence":"additional","affiliation":[{"name":"Division of Anatomic Pathology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Division of Pathology and Laboratory Medicine Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa","family":"Victoria","sequence":"additional","affiliation":[{"name":"Division of Radiology Massachusetts General Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carin","family":"Yates","sequence":"additional","affiliation":[{"name":"GeneDx  Gaithersburg Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie S.","family":"Moldenhauer","sequence":"additional","affiliation":[{"name":"Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Surgery Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,3,30]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.148"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.heliyon.2022.e12210"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gyobfe.2013.06.013"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.issn.1003\u20109406.2017.02.019"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6563","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,6]],"date-time":"2024-05-06T19:59:34Z","timestamp":1715025574000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6563"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,30]]},"references-count":6,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["10.1002\/pd.6563"],"URL":"https:\/\/doi.org\/10.1002\/pd.6563","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,30]]},"assertion":[{"value":"2024-02-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-30","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}