Stapedial ankylosis in the Mayer-Rokitansky-Küster-Hauser syndrome

We describe a 21-year-old woman with congenital unilateral conductive hearing loss and an atypical form of the Mayer-Rokitansky-Küster-Hauser syndrome. To our knowledge, this is the first reported case of this syndrome in which surgery for congenital stapedial ankylosis was successful. Besides aplasia of the vagina and uterus, the patient also had various other anomalies, such as the Klippel-Feil syndrome, Sprengel's deformity, and congenital stapedial ankylosis. Congenital hearing loss is an associated characteristic of the Mayer-Rokitansky-Küster-Hauser syndrome (10% to 20% of cases), particularly in the atypical form. Against the background of the favorable results of surgery for isolated unilateral congenital stapedial ankylosis and other unilateral congenital anomalies of the middle ear that have been described in the literature and the significant advantages of bilateral hearing, we used stapedectomy to successfully treat this case of Mayer-Rokitansky-Küster-Hauser syndrome with unilateral congenital stapedial ankylosis.