{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:48:45Z","timestamp":1790833725644,"version":"4.1.0"},"reference-count":11,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2007,4,24]],"date-time":"2007-04-24T00:00:00Z","timestamp":1177372800000},"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":[[2007,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To describe a family in which it was possible to perform prenatal diagnosis of Nance\u2010Horan Syndrome (NHS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The fetus was evaluated by 2nd trimester ultrasound. The family underwent genetic counseling and ophthalmologic evaluation. The <jats:italic>NHS<\/jats:italic> gene was sequenced.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Ultrasound demonstrated fetal bilateral congenital cataract. Clinical evaluation revealed other family members with cataract, leading to the diagnosis of NHS in the family. Sequencing confirmed a frameshift mutation (3908del11bp) in the NHS gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Evaluation of prenatally diagnosed congenital cataract should include a multidisciplinary approach, combining experience and input from sonographer, clinical geneticist, ophthalmologist, and molecular geneticist Copyright \u00a9 2007 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.1734","type":"journal-article","created":{"date-parts":[[2007,4,24]],"date-time":"2007-04-24T16:24:10Z","timestamp":1177431850000},"page":"662-664","source":"Crossref","is-referenced-by-count":34,"title":["Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance\u2010Horan syndrome in the extended family"],"prefix":"10.1002","volume":"27","author":[{"given":"Adi","family":"Reches","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuval","family":"Yaron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn","family":"Burdon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ornit","family":"Crystal\u2010Shalit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dvora","family":"Kidron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mira","family":"Malcov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ron","family":"Tepper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,4,24]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb00783.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.022517"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/379381"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.63.7_Spec_No.755"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.7.481"},{"key":"e_1_2_1_7_1","first-page":"98","article-title":"X\u2010linked cataract and hutchinsonian teeth","volume":"10","author":"Horan MB","year":"1974","journal-title":"Aust Paediatr J"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.10.632"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.1748"},{"issue":"4","key":"e_1_2_1_10_1","first-page":"285","article-title":"Congenital X linked cataract, dental anomalis and brachymetacarpalia","volume":"10","author":"Nance WE","year":"1974","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970822)71:3<305::AID-AJMG11>3.0.CO;2-O"},{"key":"e_1_2_1_12_1","doi-asserted-by":"crossref","first-page":"166","DOI":"10.3928\/0191-3913-19790501-08","article-title":"A family with X\u2010chromosomal recessive congenital cataract, microphthalmia, a peculiar form of the ear and dental anomalies","volume":"16","author":"Van Dorp DB","year":"1979","journal-title":"J Pediatr Ophthalmol Strabismus"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1734","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1734","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T18:02:56Z","timestamp":1700071376000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1734"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,4,24]]},"references-count":11,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2007,7]]}},"alternative-id":["10.1002\/pd.1734"],"URL":"https:\/\/doi.org\/10.1002\/pd.1734","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,4,24]]}}}