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.