Abstract
A 29-year old Sri Lankan lady, born in Manipay, Jaffna, presented with congenital deafness, brilliant blue colour iris, premature greying of hair, medial eye brow flare (synophrys) and broad nasal bridge with dystopia canthorum. We diagnosed Waardenburg syndrome (WS) type-1. Mainstay of management of this syndrome is genetic counselling and attending to sensorineural hearing loss. We arranged a hearing aid for her. It improved her quality of life and social communication.
Highlights
Waardenburg syndrome (WS) is a rare genetic disorder characterized by congenital hearing loss, pigmentation anomalies and various ocular features including dystopia canthorum
Type-1 WS consists of dystopia canthorum and broad nasal root
Diagnosis and improvement of the hearing defects are crucial for the psychological and speech development in children with WS even though in adults, improvement of hearing by hearing aid will improve their quality of life
Summary
Waardenburg syndrome (WS) is a rare genetic disorder characterized by congenital hearing loss, pigmentation anomalies and various ocular features including dystopia canthorum. We report a 29year old lady who presented with characteristic features of Waardenburg syndrome. A 29-year old Sri Lankan lady, born in Manipay, Jaffna, presented with deafness and dumbness. On general examination, she had characteristic brilliant blue colour iris and premature grey hair (Figure 1). Medial eyebrow flare (synophrys) and broad nasal bridge with increased inter canthal distance were noticed. According to diagnostic criteria for WS (Table 1), she fulfilled three major and three minor criteria and we made the diagnosis of WS
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