Aural abnormalities in Klippel-Feil syndrome.
Klippel-Feil syndrome, the triad of short neck, low occipital hairline, and limitation of movement of the head, is often associated with other serious congenital anomalies of the nervous, urogenital, and cardiovascular, and respiratory systems. Hearing loss is the second most common associated anomaly following neurologic defects. Histologic studies of the temporal bones of an infant with Klippel-Feil syndrome whom we studied showed severe anomalies in one ear consisting of microtia, aural atresia, maldeveloped ossicles, fixed stapes, hypoplastic facial nerve, short cochlea, and large diameter of the lateral semicircular canal.
D000015:Abnormalities, Multiple; D004432:Ear, Middle / Q000002:abnormalities* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007714:Klippel-Feil Syndrome / Q000150:complications* / Q000473:pathology; D008297:Male; D013199:Stapes / Q000002:abnormalities; D014432:Tympanic Membrane / Q000002:abnormalities