Branchio-oculo-facial syndrome.
Branchio-oculo-facial (BOF) syndrome is a rare autosomal dominant disorder that has a distinct phenotype with characteristic craniofacial abnormalities. These consist of branchial anomalies, including supra-auricular sinuses, and aplastic cervical skin lesions, with possible ectopic dermal thymus, malformed auricles, stenotic external auditory canals, conductive hearing loss, ocular abnormalities (microphthalmia and lacrimal duct obstruction), and pseudocleft of the upper lip. Extracraniofacial malformations are uncommon. We describe two new cases of BOF and discuss the classical clinical presentation and differential diagnosis. Our two patients presented with facial nerve paralysis and were also were found to have inner ear dysplasias with associated sensorineural hearing loss which, to our knowledge, have not been described in the literature in association with this syndrome.
Raveh
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Department of Pediatric Otolaryngology, Hospital for Sick Children, Ontario, Toronto, Canada.
Papsin
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BC
Forte
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V
D019280:Branchio-Oto-Renal Syndrome / Q000150:complications / Q000175:diagnosis* / Q000601:surgery; D002675:Child, Preschool; D003051:Cochlea / Q000002:abnormalities / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D005158:Facial Paralysis / Q000150:complications / Q000175:diagnosis; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D008297:Male; D012720:Severity of Illness Index; D014057:Tomography, X-Ray Computed