Oculoauriculovertebral complex with an atypical cause of obstructive sleep apnea.
Oculoauriculovertebral spectrum (OAVS) is a birth defect of unknown etiology, often causing obstructive sleep apnea, due to unilateral retrognathia. We describe an adolescent sleep apnea patient, with usual and unusual signs of OAVS. Apart from mandibular hypoplasia, microtia, external auditory canal atresia and cervical vertebrae anomalies, skull base asymmetry was also noted, resulting in aberrant anatomy of the tympanic cavity, and nasopharyngeal obstruction, which was the main source of the patient's apneas. The extended craniofacial abnormalities manifested here, suggest a broader developmental impairment, exceeding the 1st and 2nd branchial arch malformation theory, which is the principal hypothesis for OAVS etiology.
Kourelis
Konstantinos
K
Department of Head and Neck Surgery, University Hospital of Patras, Rio, Patras, Greece. concourel@vodafone.net.gr
Gouma
Panagiota
P
Naxakis
Stefanos
S
Kalogeropoulou
Christina
C
Goumas
Panos
P
D000293:Adolescent; D004424:Ear Canal / Q000002:abnormalities / Q000000981:diagnostic imaging; D004431:Ear, External / Q000002:abnormalities; D006053:Goldenhar Syndrome / Q000150:complications* / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D009305:Nasopharynx / Q000002:abnormalities / Q000000981:diagnostic imaging; D017286:Polysomnography; D012886:Skull / Q000000981:diagnostic imaging; D020181:Sleep Apnea, Obstructive / Q000175:diagnosis / Q000209:etiology*; D014057:Tomography, X-Ray Computed