软骨发育不全,上呼吸道入路判断。

A M García de Hombre, C Vaquero Collado
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摘要

软骨发育不全是一种遗传性疾病,属于软骨萎缩或骨化异常的一类疾病。其主要特点是骨架上有一系列的不规则,但最突出的特点是高度短。软骨发育不全的诊断是通过结合临床和放射学特征来实现的。99%的病例是通过基因研究诊断出来的。因为它的多重畸形不仅在颅骨和颈椎,而且在胸椎,通常在成人中,这意味着在需要时使用上呼吸道是一个挑战。在这些病例中,选择纤维气管插管或气管切开插管是一个非常复杂的过程。我们对软骨发育不全患者的耳鼻喉科进行了修订
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[Achondroplasia, judgement about the upper airway approach].

Achondroplasia is an hereditary disorder which belongs to the group of illnesses called condristrophic or anomalies in the ossification of the cartilages. Its main characteristic is a series of irregularities in the skeleton, but the most outstanding characteristic is the short height. The diagnosis of achondroplasia is achieved by means of a combination of clinical and radiological characteristics. The 99% of the cases is diagnosticated by the genetic study. Because of its multiple deformities not only in the skull and cervical but also thoracic, usually in adults, it means a challenge for the use of upper airway when it's requiered. To choose the fibreoptics or orotraqueal intubation or the tracheotomy are very complex processes in these cases. We do a revision about the ENT aspects to be considered in the patients of achondroplasia

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