Familial Phenotype of Waardenburg Syndrome in One Family: A Case Series

Authors

  • Eka Savitri1 , Indra Irawan1 , Habibah S. Muhiddin1 , Fadly1

DOI:

https://doi.org/10.37506/mlu.v21i1.2545

Keywords:

SNHL, Waardenburg syndrome, dystopia canthorum, autosomal dominant.

Abstract

Waardenburg syndromeis an accumulation of some genetic conditions which leads to sensorineural hearing
loss (SNHL) and depigmentation of hair, skin, and eyes. The cause of sensorineural hearing loss in children
can be congenital or hereditary, characterized by sensorineural deafness, associated with pigment disorders
and tissue defects. Based on the accompanying symptoms, Waardenburg syndrome is divided into 4 types,
where the most often ones are type 1 and 2. Clinical symptoms including dystopia canthorum, pigment
disorders (white crest, abnormalities of eyebrow, eyelashes, body hair and iris heterochromia), sensorineural
deafness, protruding nose and depigmentedhair at young age. Based on physical and additional examinations
performed on five patients, all results showed mayor and minor symptoms of waardenberg syndrome
accompanied by dystopia canthorum, therefore classified aswaardenburg type 1.
Conclusion: All patients are classified as type 1 Waandenberg syndrome which were inherited in the form
of autosomal dominant.

Author Biography

Eka Savitri1 , Indra Irawan1 , Habibah S. Muhiddin1 , Fadly1

1
Lecturers of Department of Otorhinolaryngology, Faculty of Medicine Universitashasanuddin, Makassar

Published

2021-01-09

How to Cite

Eka Savitri1 , Indra Irawan1 , Habibah S. Muhiddin1 , Fadly1. (2021). Familial Phenotype of Waardenburg Syndrome in One Family: A Case Series. Medico Legal Update, 21(1), 1569-1576. https://doi.org/10.37506/mlu.v21i1.2545

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