46, XY disorders of sex development and congenital diaphragmatic hernia: A case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly. (21st April 2015)

• Record Type: Journal Article
• Authors: Esplin, Edward D.; Chaib, Hassan; Haney, Michael; Martin, Brock; Homeyer, Margaret; Urban, Alexander E.; Bernstein, Jonathan A.
• Is Part Of: American journal of medical genetics. Volume 167:Number 6(2015:Jun.)
• Page Start: 1360
• Page End: 1364
• Publication Date: 2015-04-21
• Subjects: congenital diaphragmatic hernia -- disorders of sex development -- truncus arteriosus -- bifid thymus -- gut malrotation -- polysplenia -- rhizomelia -- adactyly; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37037
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : 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. © 2015 Wiley Periodicals, Inc.