Jovankovičová A, Jakubíková J, Durovčíková D
Children's University Hospital, Limbova 1, 833 40 Bratislava, Slovak Republic.
Int J Pediatr Otorhinolaryngol. 2012 Apr;76(4):596-600. doi: 10.1016/j.ijporl.2012.01.007. Epub 2012 Jan 31.
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.
克-费综合征是一种以颈椎融合为特征的先天性异常。它常与神经、心血管和泌尿生殖系统的严重先天性异常相关。迄今为止尚未得到充分研究的异常情况之一是伴随克-费综合征和咽鼓管扩大的情况。我们报告一例III型克-费综合征病例，伴有肋骨异常，如肋骨发育不全和肋骨分叉、脊柱侧弯和肩胛骨高位（Sprengel病）。患者还出现半侧颜面短小和右侧面部下部中枢性面瘫、泌尿生殖和心血管异常、先天性肛门闭锁以及右侧先天性外耳道闭锁伴小耳畸形。颞骨计算机断层扫描显示右侧咽鼓管异常延伸，并伴有该侧中耳和内耳异常。在本病例报告中，我们讨论了该克-费综合征患者的相关异常情况。本病例报告的目的是引起对克-费综合征伴咽鼓管扩大这一非常罕见病例的关注。
