Abstract:
Objective To investigate the diagnostic characteristics of Kabuki syndrome(KS) with otitis media with effusion (OME) as the first symptom.
Methods The 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.
Results The 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 follow-up, 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.
Conclusions Children 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.
Key words:
Otitis media with effusion,
Kabuki syndrome,
KMT2D gene,
Diagnosis
Min Liu, Min Zhang, Yanyun Wang, Liping Meng, Hui Ji, Qin Hong. Diagnostic features of Kabuki syndrome with otitis media with effusion as the first symptom and literature review[J]. Chinese Journal of Diagnostics(Electronic Edition), 2021, 09(03): 197-201.