Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0262471 (ENT)
 5,307 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Characteristic temporal bone changes have recently been defined by high resolution CT in nine patients with achondroplasia (Cobb et al., Am J Neuroradiol 9:1195, 1988). These included narrowing of the skull base and "towering" petrous ridges resulting in abnormal orientation of the inner and middle ear structures. In order to determine whether these morphologic changes are the cause of the hearing deficit in achondroplasia, audiometric studies and ENT evaluation were performed in eight of the nine patients. All had a history of frequent otitis media and four had experienced tympanic membrane tube insertion. Three patients had significant sensorineural hearing loss, two had conductive hearing loss and one patient had combined hearing loss. None of the temporal bone morphologic changes were found to be correlated with the degree of either sensorineural or conductive hearing loss. Fusion of the ossicular chain was not present in any of our cases. Appropriate treatment of frequent acute otitis media and early awareness of middle ear effusions and conductive hearing loss in children with achondroplasia may be of great importance in preventing permanent hearing loss.
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PMID:Hearing loss and temporal bone structure in achondroplasia. 845 22

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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PMID:[Achondroplasia, judgement about the upper airway approach]. 1754 64