A case of Klippel-Feil syndrome with congenital enlarged Eustachian tube.
The Klippel-Feil syndrome is a congenital anomaly characterized by fusion of the cervical vertebrae. It is often associated with serious congenital anomalies of the nervous, cardiovascular and urogenital systems. One of the anomalies which have not been thoroughly investigated to date are that accompanying Klippel-Feil syndrome and enlarged Eustachian tube. We report a case of type III Klippel-Feil syndrome with associated rib anomalies such as hypoplastic and bifid ribs, scoliosis and elevated scapula (Sprengel's disease). The patient also presented hemifacial microsomia and central facial palsy of the lower right side of the face, urogenital and cardiovascular anomaly, congenital anorectal atresia and right-sided congenital aural atresia with microtia. Computer tomography of temporal bone showed abnormal extension of the right Eustachian tube with anomalies of the middle and inner ear on this particular side. In this case report we discuss the associated anomalies of the patient with Klippel-Feil syndrome. The aim of this case report is to draw attention to very rare case of patient with Klippel-Feil syndrome and enlarged pharyngotympanic tube.
Children's University Hospital, Limbova 1, 833 40 Bratislava, Slovak Republic. jovankovicova@gmail.com
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Jovankovičová
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Jakubíková
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Durovčíková
D002675:Child, Preschool; D005064:Eustachian Tube / Q000002:abnormalities*; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D008297:Male