{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,28]],"date-time":"2024-08-28T20:34:08Z","timestamp":1724877248588},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,4,21]],"date-time":"2015-04-21T00:00:00Z","timestamp":1429574400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Tashia and John Morgridge Endowed Postdoctoral Fellowship through the Child Health Research Institute and the Stanford CTSA","award":["UL1 TR000093"],"award-info":[{"award-number":["UL1 TR000093"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:sec><jats:label \/><jats:p>The association of 46,XY disorder of sex development (DSD) with congenital diaphragmatic hernia (CDH) is rare, but has been previously described with and without other congenital anomalies. Literature review identified five cases of 46,XY DSD associated with CDH and other congenital anomalies. These five cases share characteristics including CDH, 46,XY karyotype with external female appearing or ambiguous genitalia, cardiac anomalies, and decreased life span. The present case had novel features including truncus arteriosus, bifid thymus, gut malrotation, and limb anomalies consisting of rhizomelia and adactyly. With this case report, we present a review of the literature of cases of 46,XY DSD and CDH in association with multiple congenital abnormalities. This case may represent a unique syndrome of 46,XY DSD and diaphragmatic hernia or a more severe presentation of a syndrome represented in the previously reported cases. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37037","type":"journal-article","created":{"date-parts":[[2015,4,22]],"date-time":"2015-04-22T03:53:25Z","timestamp":1429674805000},"page":"1360-1364","source":"Crossref","is-referenced-by-count":3,"title":["46,XY disorders of sex development and congenital diaphragmatic hernia: A case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly"],"prefix":"10.1002","volume":"167","author":[{"given":"Edward D.","family":"Esplin","sequence":"first","affiliation":[{"name":"Department of Pediatrics Division of Medical Genetics Stanford University School of Medicine Stanford California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hassan","family":"Chaib","sequence":"additional","affiliation":[{"name":"Department of Genetics Stanford University School of Medicine Stanford California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Haney","sequence":"additional","affiliation":[{"name":"Department of Genetics Stanford University School of Medicine Stanford California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brock","family":"Martin","sequence":"additional","affiliation":[{"name":"Department of Pathology Stanford University School of Medicine Stanford California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret","family":"Homeyer","sequence":"additional","affiliation":[{"name":"Center for Fetal and Maternal Health Lucile Packard Children's Hospital Stanford California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander E.","family":"Urban","sequence":"additional","affiliation":[{"name":"Department of Genetics Stanford University School of Medicine Stanford California"},{"name":"Department of Psychiatry and Behavioral Sciences Stanford University School of Medicine Stanford California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan A.","family":"Bernstein","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Medical Genetics Stanford University School of Medicine Stanford California"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,4,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32168"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-006-0273-5"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570120"},{"key":"e_1_2_8_5_1","volume-title":"Wilms tumor overview","author":"Dome JS","year":"1993"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0027859"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/513442"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30298"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-0738"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420503"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.4.315"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410420"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09708"},{"key":"e_1_2_8_14_1","volume-title":"46,XY disorder of sex development and 46,XY complete gonadal dysgenesis","author":"Ostrer H","year":"2008"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02076338"},{"key":"e_1_2_8_16_1","unstructured":"PoberBR RussellMK AckermanKG.2006. 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