Unusual mullerian anomalies associated with distal extremity abnormalities.
A 13-year-old girl was evaluated with nonfamilial mullerian anomalies consisting of bilateral blind uterine horns, a separate cervical remnant, and total vaginal agenesis. The observed musculoskeletal abnormalities of the distal extremities differed from those usually associated with both nonfamilial mullerian agenesis (Rokitansky-Küster-Hauser syndrome) and the familial syndromes associated with mullerian anomalies. The pattern of mullerian dysgenesis is unusual in that the entire vagina is absent and a cervical remnant separate from the two blind uterine horns is present in the midline in the normal course of the paramesonephric ducts.
D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D002584:Cervix Uteri / Q000002:abnormalities*; D005260:Female; D006801:Humans; D017880:Limb Deformities, Congenital; D009095:Mullerian Ducts; D014551:Urinary Tract / Q000002:abnormalities; D014599:Uterus / Q000002:abnormalities*; D014621:Vagina / Q000002:abnormalities*