Waardenburg syndrome - Report of two cases

Abstract

Waardenburg syndrome (WS) is a group of genetically heterogeneous disorders characterised by white forelock of hair, heterochromia irides, blue eyes, and sensorineural hearing loss as main characteristics. A 3-year-old girl presented with pre-lingual deafness and mild delay in developmental milestones. Both parents were deaf since childhood. On examination, she had a white forelock, heterochromia iridium, dystopia canthorum and hypopigmented areas noted in the distal end of all four limbs. A 1-year-old girl presented with pre-lingual deafness. Other milestones are normal for age. On examination, the baby was not responding to sound, and white forelock, heterochromia iridium, dystopia canthorum and hypopigmented skin over the dorsum of hands and legs were present. Mother also has a white forelock and dystopia canthorum. Brain stem auditory-evoked potentials in both cases showed bilateral auditory pathway dysfunction. Based on the above findings, a diagnosis of WS type-1 (WS-1) was made in both and confirmed by genetic testing. Clinical features of the skin, hair changes, and hearing impairment with language delay with a family history that we should consider WS-1.