A Rare Case Report: Waardenburg Syndrome

Mita Rahma; Nabila Nabila; Veby Novri Yendri

doi:10.2991/978-94-6463-048-0_27

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A Rare Case Report: Waardenburg Syndrome

Authors

Mita Rahma¹, Nabila Nabila¹, Veby Novri Yendri²^{, *}

¹Faculty of Medicine, Universitas Islam Indonesia, Yogyakarta, Indonesia

²Department of Otorhinolaryngology, Head and Neck Surgery, Faculty of Medicine, Universitas Islam Indonesia, Yogyakarta, Indonesia

^*Corresponding author. Email: 117110411@uii.ac.id

Corresponding Author

Veby Novri Yendri

Available Online 19 December 2022.

DOI: 10.2991/978-94-6463-048-0_27 How to use a DOI?
Keywords: Waardenburg Syndrome; Sensorineural Hearing Loss; Pigmentation Defect
Abstract: Hearing loss is one of the most common congenital disorders. Hearing loss in early childhood will impair speech and language development. Waardenburg syndrome (WS) is a rare genetic disorder characterized by sensorineural deafness associated with pigmentary anomalies and various defects on neural crest derived tissues. Waardenburg syndrome is classified into four types based on their phenotypic characteristics. Clinical signs of WS include sensorineural deafness, dystopia canthorum and hypopigmentation of the iris, skin, and hair.This report presents a case of Waardenburg Syndrome at the Otorhinolaryngology Clinic, Hospital of Universitas Islam Indonesia which was found in April 2021. An 11-month-old child was referred for investigation of speech delay etiology. The mother’s pregnancy history did not reveal any infection or accompanying severe disease. The patient is an only child, and no one in the family has experienced anything similar. Physical examination showed pigmentary abnormality of the iris and a flat nose bridge. An otoacoustic emission (OAE) test and Brain Evoked Response Auditory (BERA) were performed and revealed sensorineural hearing loss (SNHL).Waardenburg syndrome is a rare genetic disorder. Diagnosis can be established based on physical examination and audiology examination so that early intervention can be done to improve speech and language development.
Copyright: © 2023 The Author(s)
Open Access: Open Access This chapter is licensed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/), which permits any noncommercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license and indicate if changes were made.

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Volume Title: Proceedings of the 3rd International Conference on Cardiovascular Diseases (ICCvD 2021)
Series: Advances in Health Sciences Research
Publication Date: 19 December 2022
ISBN: 978-94-6463-048-0
ISSN: 2468-5739
DOI: 10.2991/978-94-6463-048-0_27 How to use a DOI?
Open Access: Open Access This chapter is licensed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/), which permits any noncommercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license and indicate if changes were made.

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ris enw bib

TY  - CONF
AU  - Mita Rahma
AU  - Nabila Nabila
AU  - Veby Novri Yendri
PY  - 2022
DA  - 2022/12/19
TI  - A Rare Case Report: Waardenburg Syndrome
BT  - Proceedings of the 3rd International Conference on Cardiovascular Diseases (ICCvD 2021)
PB  - Atlantis Press
SP  - 235
EP  - 239
SN  - 2468-5739
UR  - https://doi.org/10.2991/978-94-6463-048-0_27
DO  - 10.2991/978-94-6463-048-0_27
ID  - Rahma2022
ER  -

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