[Rokitansky-Küstner syndrome (absent vagina, rudimentary uterus) associated with renal aplasia, phokomelia and Klippel-Feil anomaly (author's transl)].
A case of multiple malformations, absent vagina, rudimentary uterus (Rokitansky-Küstner syndrome), renal aplasia, fusion of the cervical vertebral bones (Klippel-Feil anomaly) and phokomelia is presented. Association of absent vagina and Klippel-Feil anomaly is variously reported, however in this case these anomalies are associated with phokomelia. Etiology of these malformations is discussed with the view to similarity to the Thalidomide syndrome.
D000015:Abnormalities, Multiple; D000328:Adult; D004480:Ectromelia / Q000150:complications*; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities*; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D007714:Klippel-Feil Syndrome / Q000150:complications*; D014599:Uterus / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities
Rokitansky-Küstner-Syndrom (Vaginalaplasie, rudimentärer Uterus) kombiniert mit Nierenaplasie, Phokomelie und multiplen Skelettfehlbildungen im Sinne eines Klippel-Feil-Syndroms