耳鼻咽喉科: オープンアクセス

抽象的な

Waardenburg Syndrome Type I: An Otorhinolaryngologist's Perspective

Abhilasha Goswami and Kalpana Sharma

Waardenburg syndrome type I is a rare, autosomal dominant auditory-pigmentary syndrome characterized by congenital sensorineural hearing loss, pigmentary abnormalities of the iris, hair and skin, and dystopia canthorum. Waardenburg syndrome affects an estimated 1 in 40,000 people. It accounts for 2 to 5 percent of all cases of congenital hearing loss. Here, we present the case of an 11-month old girl with Waardenburg syndrome type I.