Goldenhar症候群の1症例--内耳道狭窄・先天性皮膚泡の合併

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Goldenhar's syndrome is considered to be a rare congenital malformation resulting from abnormal development of the first and second branchial arches. It consists of ear, eye and vertebral column anomalies and is an oculo-auriculo-vertebral dysplasia.Some cases of Goldenhar's syndrome are reported to be accompanied by cardiovascular system anomalies, but few have central nervous system anomalies.This paper deals with an 18-year-old female, who was diagnosed as having Goldenhar's syndrome on the basis of bilateral accessory auricular appendages and epibulbar lipodermoid, coloboma of the right upper eyelid, and synostosis of cervical vertebrae. She also had left sensori-neural hearing loss, stenosis of the left internal auditory meatus, a congenital intracranial dermal sinus, and unliateral hypoplasia of the mandible.We considered that this hearing loss was closely related to the stenosis of the internal auditory meatus.
耳鼻咽喉科臨床学会の論文