Concurrence of the Holt-Oram syndrome and the Rokitansky-Kuster-Hauser syndrome. A case report.
A 15-year-old white woman, karyotype 46,XX, had an absent vagina and uterus (Rokitansky-Kuster-Hauser syndrome) as well as an atrial septal defect and transphalangeal thumb (Holt-Oram syndrome). The concurrence of the above two syndromes has not been reported on before.
D000015:Abnormalities, Multiple; D000293:Adolescent; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000150:complications*; D006801:Humans; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*; D014599:Uterus / Q000002:abnormalities*; D014621:Vagina / Q000002:abnormalities*