Goldenhar Syndrome
[摘要] Goldenharsyndrome(GS)orOculo-Auriculo-VertebralSyndromeisararediseasecharacterizedbycraniofacialanomaliessuchashypoplasiaofthemandibleandmalarbone,microtia,andvertebralanomalies.GSisanetiologicallyheterogeneousdisorderthatmayhaveageneticbasisinsomecases.Here,a3-month-oldgirlwithGSisreported.Shewasbroughtforroutinecheck-up.Onphysicalexamination,theunusualfeatureswerefacialasymmetry,unilateralmacrostomia,apreauriculartaglowsetear,atresiaofexternalearcanalandanepibulbardermoidcystattheleftside.Brain-stemevokedresponseaudiometryshowedsevere-profoundconductivehearinglossontheleftside.Shehasanolderbrotherwiththesameproblems.CongenitalmalformationsinpatientwithGSareunilateral.Earlydetectionandtreatmentofhearinglossisveryimportantinthedevelopmentofthepatient.
[发布日期] [发布机构]
[效力级别] [学科分类] 基础医学
[关键词] [时效性]
