{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:07:29Z","timestamp":1760782049839},"reference-count":16,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2001,5,18]],"date-time":"2001-05-18T00:00:00Z","timestamp":990144000000},"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":[[2001,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Porencephaly is a rare central nervous system (CNS) abnormality that can be caused by an intraparenchymal destructive process or a developmental defect. Here we report on a prenatal ultrasound diagnosis of complex CNS abnormalities including agenesis of the corpus callosum, agenesis of the cerebellar vermis, bilateral hydrocephaly, and bilateral porencephaly in fetus at 33 weeks' gestation. The diagnosis of familial orofaciodigital syndrome type I (OFD I) was raised after fetal autopsy, clinical examination of the family, and the X\u2010linked dominant inheritance pattern. This is the fourth report of porencephaly in association with OFD I. We discuss the difficulties in genetic counselling since OFD I shows variable expressivity of the phenotypic features. Furthermore, we emphasize the importance of a detailed ultrasound examination after a prenatal diagnosis of porencephaly. Copyright \u00a9 2001 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.92","type":"journal-article","created":{"date-parts":[[2002,9,11]],"date-time":"2002-09-11T01:23:48Z","timestamp":1031707428000},"page":"466-470","source":"Crossref","is-referenced-by-count":13,"title":["Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly"],"prefix":"10.1002","volume":"21","author":[{"given":"Christel","family":"Thauvin\u2010Robinet","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thierry","family":"Rousseau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Durand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Laurent","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Maingueneau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Sagot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annie","family":"Nivelon\u2010Chevallier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2001,5,18]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.11.773"},{"key":"e_1_2_1_3_1","first-page":"103","article-title":"Les malformations c\u00e9r\u00e9brales dans le syndrome oro\u2010facio\u2010digital de Papillon\u2010L\u00e9age et Psaume","volume":"58","author":"Baraton J","year":"1977","journal-title":"J Radiol Electr"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.75.4.236"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.2.116"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1970.02100050282022"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006254-199509000-00023"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.7.1163"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990212)82:4<352::AID-AJMG15>3.0.CO;2-G"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460318"},{"volume-title":"Handbook of Clinical Neurology","year":"1977","author":"Gross H","key":"e_1_2_1_11_1"},{"key":"e_1_2_1_12_1","first-page":"87","article-title":"Scalp lipomas and cerebral malformations: overlap between encephalocranio\u2010cutaneaous syndrome (Letter)","volume":"3","author":"Hennekam RCM","year":"1994","journal-title":"Clin Dysmorphol"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980203)75:4<389::AID-AJMG8>3.0.CO;2-L"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380416"},{"key":"e_1_2_1_15_1","first-page":"396","article-title":"Familial porencephaly (Letter)","volume":"38","author":"Sensi A","year":"1990","journal-title":"Clin Genet"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990917)86:3<269::AID-AJMG14>3.0.CO;2-G"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520304"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.92","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.92","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T15:42:31Z","timestamp":1700322151000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.92"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,5,18]]},"references-count":16,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2001,6]]}},"alternative-id":["10.1002\/pd.92"],"URL":"https:\/\/doi.org\/10.1002\/pd.92","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"type":"print","value":"0197-3851"},{"type":"electronic","value":"1097-0223"}],"subject":[],"published":{"date-parts":[[2001,5,18]]}}}