{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T13:58:29Z","timestamp":1789912709438,"version":"4.0.1"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,11,13]],"date-time":"2012-11-13T00:00:00Z","timestamp":1352764800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2013,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Fetal pathology aims to recognize syndromal patterns of anomalies for goal\u2010directed mutation analyses, genetic counseling, and early prenatal diagnosis in consecutive pregnancies. Here, we report on five fetuses with Peters' plus syndrome (PPS) from two distinct families aborted after prenatal ultrasound diagnosis of hydrocephaly.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We performed fetal autopsies and molecular analyses.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among 44 fetuses with prenatally diagnosed hydrocephaly, four fetuses of 16 to 21 gestational weeks presented with additional cleft lip\/palate and\/or agenesis of the corpus callosum. Other features were growth retardation, hypertelorism, anomalies of the eyes, in part consistent with Peters' anterior chamber anomalies, mild brachymelia, brachydactyly, and also internal anomalies. Suspected PPS was confirmed by detection of <jats:italic>B3GALTL<\/jats:italic> mutation in these four fetuses and in one additional sib fetus, revealing homozygosity for the common c.660\u2009+\u20091G\u2009&gt;\u2009A donor splice site mutation in intron 8.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Autosomal\u2010recessive PPS has not yet been diagnosed prenatally. We want to alert ultrasonographers to the diagnosis of this disorder in growth\u2010retarded fetuses with (recurrent) hydrocephaly, agenesis of the corpus callosum, and cleft lip\/palate and stress the more severe fetal manifestation, describing a first such case with additional Dandy\u2013Walker cyst and occult meningoencephalocele. \u00a9 2012 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.4012","type":"journal-article","created":{"date-parts":[[2012,11,13]],"date-time":"2012-11-13T13:22:08Z","timestamp":1352812928000},"page":"75-80","source":"Crossref","is-referenced-by-count":25,"title":["Hydrocephalus, agenesis of the corpus callosum, and cleft lip\/palate represent frequent associations in fetuses with Peters' plus syndrome and <i>B3GALTL<\/i> mutations. \u2013 Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele"],"prefix":"10.1002","volume":"33","author":[{"given":"Katharina","family":"Schoner","sequence":"first","affiliation":[{"name":"Institute of Pathology Philipps\u2010University Marburg  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juergen","family":"Kohlhase","sequence":"additional","affiliation":[{"name":"Center for Human Genetics  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette M.","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Department of Pediatric Pathology University Clinic Bonn  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Schramm","sequence":"additional","affiliation":[{"name":"Prenatal\u2010Medicine (MVZ)  M\u00fcnchen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margit","family":"Plassmann","sequence":"additional","affiliation":[{"name":"Center for Prenatal Medicine  Dortmund 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