Waardenburg syndrome with associated multiple anomalies.
A 4 1/2-year-old girl presenting characteristics of Waardenburg's syndrome with associated multiple defects is described. The patient presents all the obvious signs of the syndrome with the exception of the white forelock (poliosis), but with additional anomalies like: syndactyly, absence of the fourth left toe, bilateral preauricular sinus and dacrocystitis. It is the second case of Waardenburg's syndrome reported by us during the last 20 years.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002675:Child, Preschool; D003607:Dacryocystitis / Q000175:diagnosis; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis; D006801:Humans; D010256:Paranasal Sinuses / Q000002:abnormalities; D013576:Syndactyly / Q000175:diagnosis; D014849:Waardenburg Syndrome / Q000175:diagnosis* / Q000473:pathology