[Otologic signs and early diagnosis of Turner syndrome. Reevaluation of 30 cases].

Journal de genetique humaine Pub Date : 1988-08-01
B P Leheup, P Perrin, C Perrin, M Pierson
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Abstract

In most occasions the Turner's syndrome is diagnosed on the basis of severe growth retardation. But the possibility of an effective treatment of short stature requires earlier a diagnosis. Among the other signs, the importance of ORL signs is underestimated. A group of 30 patients has been analysed to determine their precise extension. The external ears are frequently prominent, low-set and/or posteriorly rotated. Frequency and chronicity of otitis media is highlighted by hypoacousy of the transmission type. The perception pathology is far less common and seems being independent of middle ear pathology. A abnormal development of the 1st branchial arch is likely to explain the auricular pathology in view of the frequently associated anomalies of the palate and the dental articulation. One must clearly consider the diagnosis of Turner syndrome in the case of chronic auricular pathology associated with low linear velocity in a young girl allowing for earlier diagnosis.

特纳综合征的耳科体征及早期诊断。[30例再评价]。
在大多数情况下,特纳综合症的诊断是基于严重的生长迟缓。但要想有效治疗身材矮小,需要及早诊断。在其他信号中,ORL信号的重要性被低估了。对一组30名患者进行了分析,以确定他们的确切延伸。外耳常突出、低置和/或向后旋转。中耳炎的频率和慢性是突出的传播型虚哑。感觉病理远不常见,似乎是独立于中耳病理。第一鳃弓的异常发育很可能解释耳部的病理,因为它经常伴随腭和牙关节的异常。一个人必须清楚地考虑特纳综合征的诊断在慢性耳廓病理相关的低线速度在一个年轻的女孩允许早期诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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