Abstract：ObjectiveTo investigate the diagnostic characteristics of Kabuki syndrome(KS) with otitis media with effusion (OME) as the first symptom. MethodsThe clinical data of a child with KS with OME as the first symptom in Otolaryngology Department of Women′s Hospital of Nanjing Medical University in August 2019 was retrospectively analyzed, and related literatures were reviewed. ResultsThe girl who failed in the newborn hearing screening was diagnosed as OME by audiological examination (acoustic impedance test, temporal ear CT, auditory brainstem response, etc.). During the audiological followup, the child was diagnosed as KS (KMT2D: c.7481dupt) by gene testing because of her special features such as sparse eyebrows, mild ectropion of lower eyelids and short nasal columella. ConclusionsChildren with KS often have different types of hearing loss, some of which are caused by OME. If there is OME with special facial features, KS should be considered.
刘敏 张敏 王彦云 孟黎平 季慧 洪琴. 以分泌性中耳炎为首发症状的歌舞伎综合征诊断学特征并文献复习#br#[J]. 中华诊断学电子杂志, 2021, 9(3): 197-201.
Liu Min1, Zhang Min1, Wang Yanyun2, Meng Liping1, Ji Hui1, Hong Qin1. Diagnostic features of Kabuki syndrome with otitis media with effusion as the first symptom and literature review. zhzdx, 2021, 9(3): 197-201.
