FAMILIAL PHENOTYPE OF WAARDENBURG SYNDROME IN FOUR WOMEN: A CASE SERIES
Indra Irawan, Eka Savitri

Department of Otorhinolaryngology
Faculty of Medicine Universitas hasanuddin
Makassar

Abstract

Waardenburg syndrome is 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 depigmented hair at young age. Based on physical and additional examinations performed on four women patients, all results showed mayor and minor symptoms of waardenberg syndrome accompanied by dystopia canthorum, therefore classified as waardenburg type 1.
Conclusion: All patients are classified as type 1 Waandenberg syndrome which were inherited in the form of autosomal dominant.

Keywords: autosomal dominant, dystopia canthorum, SNHL, Waardenburg syndrome, women

Topic: Non-communicable diseases related to women