{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:48:20Z","timestamp":1760906900409,"version":"3.40.4"},"reference-count":16,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2006,11,28]],"date-time":"2006-11-28T00:00:00Z","timestamp":1164672000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2006,11,28]],"date-time":"2006-11-28T00:00:00Z","timestamp":1164672000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Fetal Diagn Ther"],"published-print":{"date-parts":[[2007]]},"abstract":"<i>Objective:<\/i> Waardenburg syndrome type I (WS I) is an autosomal dominant inherited disorder with an incidence of 1:45,000 in Europe. Mutations within the PAX3 gene are responsible for the clinical phenotype ranging from mild facial features to severe malformations detectable in prenatal diagnosis. <i>Methods:<\/i> Here, we report a four-generation family with several affected members showing various symptoms of WS I. We diagnosed the syndrome first in a pregnant young woman; she was referred because of a spina bifida in prenatal diagnosis. We performed clinical genetic investigations and molecular genetic analysis in all available family members. <i>Results:<\/i> The phenotype displays a wide intra-familial clinical variability of pigmentary disturbances, facial anomalies and developmental defects. Molecular studies identified a novel splice site mutation within the PAX3 gene in intron 5 in all affected family members, but in none of the unaffected relatives. <i>Conclusions:<\/i> This case demonstrates the prenatal diagnosis of spina bifida in a fetus which leads to the initial diagnosis of WS I. Further studies could identify a private splice site mutation within the PAX3 gene responsible for the phenotype in this family.<\/jats:p>","DOI":"10.1159\/000097117","type":"journal-article","created":{"date-parts":[[2006,11,29]],"date-time":"2006-11-29T17:37:54Z","timestamp":1164821874000},"page":"155-158","source":"Crossref","is-referenced-by-count":17,"title":["Prenatal Diagnosis and Genetic Counseling in a Case of Spina Bifida in a Family with Waardenburg Syndrome Type I"],"prefix":"10.1159","volume":"22","author":[{"given":"Annegret","family":"Kujat","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veit-Peter","family":"Veith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renaldo","family":"Faber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ursula G.","family":"Froster","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2006,11,28]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320460534"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00290430"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038%2Fng0398-283"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038%2Fng0193-26"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320580205"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007%2Fs004390050732"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2819980203%2975%3A4%3C401%3A%3AAID-AJMG10%3E3.0.CO%3B2-S"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.32.1.52"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.33.8.655"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.32.3.200"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.10434"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F5.4.497"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1097%2F00005537-199607000-00021"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.20260"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.34.6.447"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-9926%28200003%2961%3A3%3C165%3A%3AAID-TERA3%3E3.0.CO%3B2-E"}],"container-title":["Fetal Diagnosis and Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/97117","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/97117","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:00:07Z","timestamp":1745463607000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000097117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,11,28]]},"references-count":16,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2007,2,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000097117","archive":["Portico"],"relation":{},"ISSN":["1015-3837","1421-9964"],"issn-type":[{"type":"print","value":"1015-3837"},{"type":"electronic","value":"1421-9964"}],"subject":[],"published":{"date-parts":[[2006,11,28]]}}}