Premium
Waardenburg syndrome: case report
Author(s) -
Krishtul Anna,
Galadari Ibrahim
Publication year - 2003
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1046/j.1365-4362.2003.01949_3.x
Subject(s) - medicine , hypertrichosis , waardenburg syndrome , canthus , dermatology , white (mutation) , anatomy , eyelid , ophthalmology , biology , biochemistry , gene , phenotype
A 15‐year‐old Arab boy presented with congenital deafness, heterochromia iridis (right, brown; left, blue), poliosis (white forelock), with an area of leukoderma beneath the forelock, broad nasal root, and lateral displacement of the medial canthi ( Fig. 1). Further investigation revealed that one of his siblings was similarly affected. The child was diagnosed with Waardenburg syndrome. 1Waardenburg syndrome: white forelock, heterochromia iridis, broad nasal root, leukoderma and hypertrichosis of medial eyebrows As the child grew older, the leukodermic patch on the scalp became more evident, together with confluence of the eyebrows (synophrys).