{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T01:24:20Z","timestamp":1767835460122,"version":"3.49.0"},"reference-count":7,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2025,6,16]],"date-time":"2025-06-16T00:00:00Z","timestamp":1750032000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Knobloch Syndrome\u20101 is a rare autosomal recessive disorder typically diagnosed postnatally and characterized by occipital encephalocele, high myopia, and vitreoretinal degeneration. We describe a fetus with a constellation of prenatal neuroimaging findings, including occipital cephalocele, vermian dysplasia, bilateral polymicrogyria, and ocular elongation, that prompted genetic investigation. Trio exome sequencing identified biallelic pathogenic variants in COL18A1, confirming the diagnosis of Knobloch Syndrome\u20101. This case highlights how advanced fetal neuroimaging and prenatal exome sequencing can facilitate early recognition of syndromes like Knobloch, and underscores the importance of considering COL18A1\u2010related disorders when multiple central nervous system anomalies are detected prenatally.<\/jats:p>","DOI":"10.1002\/pd.6838","type":"journal-article","created":{"date-parts":[[2025,6,17]],"date-time":"2025-06-17T00:25:02Z","timestamp":1750119902000},"page":"1074-1077","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Occipital Cephalocele, Polymicrogyria, Ocular Anomaly and Vermian Dysplasia: Prenatal Markers for Knobloch Syndrome"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9181-3095","authenticated-orcid":false,"given":"Laurence Sophie","family":"Carmant","sequence":"first","affiliation":[{"name":"Division of Maternal Fetal Medicine Department of Obstetrics and Gynaecology Mount Sinai Hospital University of Toronto  Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elka","family":"Miller","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Radiology The Hospital for Sick Children University of Toronto  Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Chitayat","sequence":"additional","affiliation":[{"name":"Division of Maternal Fetal Medicine Department of Obstetrics and Gynaecology Mount Sinai Hospital University of Toronto  Toronto Canada"},{"name":"The Prenatal Diagnosis and Medical Genetics Program Department of Obstetrics and Gynecology Mount Sinai Hospital  Toronto Ontario Canada"},{"name":"Division of Clinical and Metabolic Genetics Department of Pediatrics The Hospital for Sick Children University of Toronto  Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie","family":"Hedges","sequence":"additional","affiliation":[{"name":"The Prenatal Diagnosis and Medical Genetics Program Department of Obstetrics and Gynecology Mount Sinai Hospital  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bobbi","family":"McGivern","sequence":"additional","affiliation":[{"name":"GeneDx LLC  Gaithersburg Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimberly","family":"Harris","sequence":"additional","affiliation":[{"name":"GeneDx LLC  Gaithersburg Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Chong","sequence":"additional","affiliation":[{"name":"Division of Maternal Fetal Medicine Department of Obstetrics and Gynaecology Mount Sinai Hospital University of Toronto  Toronto Canada"},{"name":"The Prenatal Diagnosis and Medical Genetics Program Department of Obstetrics and Gynecology Mount Sinai Hospital  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6352-4846","authenticated-orcid":false,"given":"Shiri","family":"Shinar","sequence":"additional","affiliation":[{"name":"Division of Maternal Fetal Medicine Department of Obstetrics and Gynaecology Mount Sinai Hospital University of Toronto  Toronto 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