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作 者:Rui Guo Shi-Hi Chang Bing-Qing Wang Qing-Guo Zhang
出 处:《World Journal of Clinical Cases》2022年第9期2948-2953,共6页世界临床病例杂志
基 金:Supported by the National Natural Science Foundation of China,No. 81701930
摘 要:BACKGROUND Hemifacial microsomia(HFM)is a rare congenital malformation characterized by a combination of various anomalies,including the face,ears,eyes,and vertebrae.Prenatal diagnosis for HFM is possible,and quite accurate ultrasound can detect obvious defects.The etiology is still unknown,although some hypotheses have been proposed,including gene mutation,chromosome anomaly,and environmental risk factors.However,there are few reports of pulmonary hypoplasia and dextrocardia in HFM.CASE SUMMARY A 2-year-old boy presented to the ear reconstruction department of our hospital complaining of deviation of the face to the right side and auricular anomaly.Physical examination revealed facial asymmetry,preauricular skin tags,and concha-type microtia with stricture of the external auditory canal on the right side.Head magnetic resonance imaging showed bilateral semicircular canal dysplasia and bilateral internal auditory canals stenosis.Audiometric examination showed bilateral severe sensorineural hearing loss.Chest radiography and computed tomography showed dextrocardia and right pulmonary hypoplasia.CONCLUSION This case presented a rare finding and an unusual association of 3 malformations,ipsilateral HFM,pulmonary agenesis,and dextrocardia.
关 键 词:Hemifacial microsomia Oculoauriculovertebral spectrum DEXTROCARDIA Pulmonary hypoplasia Congenital anomaly Case report
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