{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T18:39:07Z","timestamp":1768415947337,"version":"3.49.0"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,3,3]],"date-time":"2017-03-03T00:00:00Z","timestamp":1488499200000},"content-version":"vor","delay-in-days":2,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>The Matthew\u2010Wood syndrome is associated with mutations of the <jats:italic>STRA6<\/jats:italic> gene. It combines a pulmonary agenesis\/hypoplasia; microphthalmia\/anophthalmia; congenital cardiac, digestive, and urogenital malformations; and diaphragmatic defects.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case<\/jats:title><jats:p>A 23\u2010year\u2010old nulliparous woman was referred to our center after a fetal ultrasound examination at 26 weeks of pregnancy revealed an abnormal head shape, a heart malformation, multiple cysts in both kidneys, and dilated ureters. A male baby (46, XY; 3600g; Apgar score 1) was delivered at 38 weeks of gestation and died 1 hr later due to respiratory failure. The diagnosis of Matthew\u2010Wood syndrome was suspected given the association of bilateral anophthalmia, agenesis of the left lung, and heart and kidney defects. It was confirmed by the identification of two deleterious mutations of the <jats:italic>STRA6<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>The child was a compound heterozygote for two previously reported mutations, a paternally inherited missense mutation (c.878C&gt;T [p.Pro293Leu] and a maternally inherited frameshift mutation (c.50_52delACTinsCC [p. Asp17Alafs*55]), producing a premature stop codon.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSION<\/jats:title><jats:p>The diagnosis of Matthew\u2010Wood syndrome should be considered in all fetuses with microphthalmia\/anophthalmia. It requires an extensive ultrasound\/MRI examination of the lung, heart, and diaphragm. Birth Defects Research 109:251\u2013253, 2017. \u00a9 2017 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23465","type":"journal-article","created":{"date-parts":[[2017,3,3]],"date-time":"2017-03-03T10:35:11Z","timestamp":1488537311000},"page":"251-253","source":"Crossref","is-referenced-by-count":10,"title":["Both a frameshift and a missense mutation of the <i>STRA6<\/i> gene observed in an infant with the Matthew\u2010Wood syndrome"],"prefix":"10.1002","volume":"109","author":[{"given":"Samantha","family":"Sadowski","sequence":"first","affiliation":[{"name":"Obstetrics, Gynecology, and Gynecological Oncology, Medical University of Lodz Lodz Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolas","family":"Chassaing","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, Pavillon Lefebvre EA\u2010455 UPSIII, H\u00f4pital Purpan CHU Toulouse  France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zuzanna","family":"Gaj","sequence":"additional","affiliation":[{"name":"Department of Perinatology and Gynecology Polish Mother's Memorial Hospital \u2013 Research Institute Lodz Poland"},{"name":"Scientific Laboratory of Center of Medical Laboratory Diagnostics, Polish Mother's Memorial Hospital \u2013 Research Institute Lodz Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewa","family":"Czichos","sequence":"additional","affiliation":[{"name":"Department of Pathology Polish Mother's Memorial Hospital \u2013 Research Institute Lodz Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Wilczynski","sequence":"additional","affiliation":[{"name":"Duchess Anna Mazowiecka Public Teaching Hospital Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorota","family":"Nowakowska","sequence":"additional","affiliation":[{"name":"Obstetrics, Gynecology, and Gynecological Oncology, Medical University of Lodz Lodz Poland"},{"name":"Department of Perinatology and Gynecology Polish Mother's Memorial Hospital \u2013 Research Institute Lodz Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,3,3]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21590"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21023"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01904.x"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/518177"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31298"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2340"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/512203"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33038"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280543"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32682"}],"container-title":["Birth Defects Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fbdra.23465","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdra.23465","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T11:58:56Z","timestamp":1696593536000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdra.23465"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["10.1002\/bdra.23465"],"URL":"https:\/\/doi.org\/10.1002\/bdra.23465","archive":["Portico"],"relation":{},"ISSN":["2472-1727","2472-1727"],"issn-type":[{"value":"2472-1727","type":"print"},{"value":"2472-1727","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3]]}}}