Diagnostic features of Kabuki syndrome with otitis media with effusion as the first symptom and literature review

doi:10.3877/cma.j.issn.2095-655X.2021.03.013

Abstract

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.

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Figures/Tables 4

References 19

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年龄	诊断型OAE	AABR	DPOAE		声导抗鼓室图类型		Click-ABR(dBnHL)		TB-ABR左耳(dBnHL)				TB-ABR右耳(dBnHL)				骨导-ABR(dBnHL)
年龄	诊断型OAE	AABR	左耳	右耳	左耳	右耳	左耳	右耳	500 Hz	1 000 Hz	2 000 Hz	4 000 Hz	500 Hz	1 000 Hz	2 000 Hz	4 000 Hz	左耳	右耳
出生后	未通过	未通过
3月龄			未引出	未引出	平坦	平坦	40	50
4月龄					平坦	平坦
5月龄					平坦	平坦
7月龄			未引出	未引出	B型	B型	45	40	50			60	60			50	无法配合	35
1岁			未引出	未引出	B型	B型	50	40	65	55	40	45	75	60	50	45	无法配合	20
1岁5月龄					B型	B型

年龄	诊断型OAE	AABR	DPOAE		声导抗鼓室图类型		Click-ABR(dBnHL)		TB-ABR左耳(dBnHL)				TB-ABR右耳(dBnHL)				骨导-ABR(dBnHL)
年龄	诊断型OAE	AABR	左耳	右耳	左耳	右耳	左耳	右耳	500 Hz	1 000 Hz	2 000 Hz	4 000 Hz	500 Hz	1 000 Hz	2 000 Hz	4 000 Hz	左耳	右耳
出生后	未通过	未通过
3月龄			未引出	未引出	平坦	平坦	40	50
4月龄					平坦	平坦
5月龄					平坦	平坦
7月龄			未引出	未引出	B型	B型	45	40	50			60	60			50	无法配合	35
1岁			未引出	未引出	B型	B型	50	40	65	55	40	45	75	60	50	45	无法配合	20
1岁5月龄					B型	B型

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