The Laryngoscope
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Otolaryngological manifestations of cleidocranial dysplasia, concentrating on audiological findings.
Cleidocranial dysplasia is an autosomal dominant skeletal syndrome characterized by open skull sutures and clavicular hypoplasia or aplasia. It results from mutations in the transcription factor CBFA1 required for osteoblast differentiation and normal bone formation. Therefore, mutations in CBFA1 would be expected to cause conductive or sensorineural hearing loss, or both. The objective of the study was to evaluate the auditory function and head and neck manifestations of patients with cleidocranial dysplasia. ⋯ In patients with cleidocranial dysplasia, eustachian tube dysfunction, conductive hearing loss, and sensorineural hearing loss are common because of structural and functional changes of the temporal bone and palate. Therefore, patients with cleidocranial dysplasia should be evaluated routinely by an otolaryngologist and undergo complete audiological testing.
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To describe a case of an isolated hypoglossal nerve palsy in a patient with a spontaneous internal carotid artery dissection (ICAD). This condition is a well-recognized cause of cerebral ischemic stroke in patients younger than 45 years of age. Isolated cranial nerve neuropathy is a rare presentation. More common manifestations include incomplete hemiparesis, hemicrania, Horner syndrome, cervical bruit, pulsatile tinnitus, and multiple cranial nerve palsies. ⋯ Patients with an ICAD infrequently present to the otolaryngologist because of its head and neck manifestations. It is crucial to recognize atypical findings and to perform an accurate and prompt diagnostic evaluation. The foundation of treatment is aggressive anticoagulation, with surgical or radiologic intervention reserved for cases demonstrating life-threatening progression.
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In patients with obstructive sleep apnea and snoring, airway obstruction during sleep is not limited to inspiration but may also occur with expiration. The aim of this study was to assess the segmental mechanics of expiratory obstruction. ⋯ During expiration, the supraglottic/retroglossal level is obstructed more frequently and has greater compliance than the retropalatal segment. Failure of upstream pressures to describe pharyngeal obstruction supports a multi-element model of collapse. Segments interact during expiration, with increased retropalatal collapse on obstructed as compared with nonobstructed breaths. Increased collapse on expiration provides a mechanism for increased obstruction on subsequent inspiratory breaths.