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From the Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Duke University Medical Center, Durham, North Carolina
Abstract
A 13-year-old girl was evaluated with nonfamilial mullerian anomalies consisting of bilateral blind uterine horns, 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-Kuster-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.
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