{"title":"[Achondroplasia, judgement about the upper airway approach].","authors":"A M García de Hombre, C Vaquero Collado","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>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</p>","PeriodicalId":75489,"journal":{"name":"Anales otorrinolaringologicos ibero-americanos","volume":"34 2","pages":"177-82"},"PeriodicalIF":0.0000,"publicationDate":"2007-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Anales otorrinolaringologicos ibero-americanos","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
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