{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T23:44:44Z","timestamp":1768088684366,"version":"3.49.0"},"reference-count":4,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T00:00:00Z","timestamp":1710720000000},"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>The fetal phenotype of <jats:italic>MPDZ<\/jats:italic>\u2010associated congenital hydrocephalus type 2 with or without brain or eye anomalies (HYC2) (OMIM 615219) is not well described in the literature. The present case shows not previously published clinical fetal features that are detected during routine second trimester ultrasound screening at 21\u00a0weeks of gestation such as bilateral ventriculomegaly, lean cavum septum pellucidum, suspicion of hypoplastic corpus callosum, and suspicion of gyration disorder with normal fossa posterior. Combination of clinical features and a gene panel for congenital malformation syndromes detected a homozygous, likely pathogenic nonsense variant in the <jats:italic>MPDZ<\/jats:italic> gene. HYC2 is a rare autosomal recessive disorder with prenatal onset. Clinical presentation is highly variable, varying from stillbirth and severe neurodevelopmental problems with death in infancy to adult patients. Other reported associated congenital anomalies are mainly heart defects and ophthalmologic abnormalities. The present case so far is the first prenatally well described case of HYC2 in an ongoing pregnancy.<\/jats:p>","DOI":"10.1002\/pd.6546","type":"journal-article","created":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T15:56:40Z","timestamp":1710777400000},"page":"657-660","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Prenatal phenotype of a homozygous nonsense <i>MPDZ<\/i> variant in a fetus with severe congenital hydrocephalus"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1317-4312","authenticated-orcid":false,"given":"Nathalie","family":"Vanden Eynde","sequence":"first","affiliation":[{"name":"Vrije Universiteit Brussel (VUB) Universitair Ziekenhuis Brussel (UZ Brussel) Clinical Sciences Research Group Genetics Reproduction and Development Centre for Medical Genetics  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3639-7615","authenticated-orcid":false,"given":"Eve","family":"Van den Mooter","sequence":"additional","affiliation":[{"name":"Center for Gynaecology Universitair Ziekenhuis Brussel  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8223-4596","authenticated-orcid":false,"given":"Elise","family":"Vantroys","sequence":"additional","affiliation":[{"name":"Vrije Universiteit Brussel (VUB) Universitair Ziekenhuis Brussel (UZ Brussel) Clinical Sciences Research Group Genetics Reproduction and Development Centre for Medical Genetics  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1500-9537","authenticated-orcid":false,"given":"Elke","family":"De Schutter","sequence":"additional","affiliation":[{"name":"Vrije Universiteit Brussel (VUB) Universitair Ziekenhuis Brussel (UZ Brussel) Clinical Sciences Research Group Genetics Reproduction and Development Centre for Medical Genetics  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Astrid","family":"Leus","sequence":"additional","affiliation":[{"name":"Center for Children's Radiology Universitair Ziekenhuis Brussel  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7349-641X","authenticated-orcid":false,"given":"Kathelijn","family":"Keymolen","sequence":"additional","affiliation":[{"name":"Vrije Universiteit Brussel (VUB) Universitair Ziekenhuis Brussel (UZ Brussel) Clinical Sciences Research Group Genetics Reproduction and Development Centre for Medical Genetics  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8020-393X","authenticated-orcid":false,"given":"Boyan","family":"Dimitrov","sequence":"additional","affiliation":[{"name":"Vrije Universiteit Brussel (VUB) Universitair Ziekenhuis Brussel (UZ Brussel) Clinical Sciences Research Group Genetics Reproduction and Development Centre for Medical Genetics  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6940-7509","authenticated-orcid":false,"given":"Kim","family":"van Berkel","sequence":"additional","affiliation":[{"name":"Vrije Universiteit Brussel (VUB) Universitair Ziekenhuis Brussel (UZ Brussel) Clinical Sciences Research Group Genetics Reproduction and Development Centre for Medical Genetics  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,3,18]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381\u2010020\u201004526\u20105"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102012\u2010101294"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24964"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40478\u2010017\u20100438\u20104"}],"container-title":["Prenatal 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