Waardenburg Syndrome Type 2: A Report of Three Cases in South-west Nigeria

Abstract

This report is about ocular and audiometric findings in three children with Waardenburg syndrome Type 2 attending Special Education Centres in Nigeria. Two female children and a male child aged 10, 13 and 5 years respectively had ocular examination and audiometric evaluation using inter-acoustics eclipse ASSR (Serial number 0933518) for auditory steady-state response audiometry (ASSR). The ocular features included bilateral hypoplastic blue irides and bilateral hypopigmented fundi while ASSR showed severe to profound sensorineural hearing loss. The three children had mutism hence they used sign languages for communication. There is a need for early detection of this condition, health education and planned rehabilitation.

Keywords

• Auditory Steady State Response Audiometry (ASSR)
• Blue irides
• Nigeria
• Sensorineural hearing loss
• Waardenburg syndrome Type 2