Congenital deafness with pigmentary disturbance of the irides

摘要

An 8-year-old boy (Fig. la,b,c), accompanied by his father, presented to the clinic with a white patch in front of his left ear and on his right leg since birth. On general examination, lateral displacement of the medial canthi and speckled brilliant blue irides were noted. The child was deaf since birth; examination revealed sensorineural deafness. He was born out of non-consanguineous parentage by an uneventful pregnancy at full term. Detailed query revealed that his mother had dyspigmentation of the irides, premature greying of hair, white forelock and deafness. What is your diagnosis? (answer on page 659)