[Waardenburg syndrome].
We report a patient with Waardenburg syndrome. He suffers from congenital deafness and presents high broad nasal root, synophrys, iris heterochromia and fundus hypopigment. The dystopia canthus is absence. In his family pedigree analysis, we found that his second cousin has oculocutaneous albinism.
Li
D
D
National Ophthalmological Laboratories, Ministry of Public Health, China.
Ma
Q
Q
Chen
Y
Y
Zeng
L
L
D000293:Adolescent; D006801:Humans; D008297:Male; D010375:Pedigree; D014849:Waardenburg Syndrome / Q000175:diagnosis* / Q000235:genetics