Waardenburg syndrome: rare cause of iretic heterochromia
About 2 family cases

Nabil Albab, HoudaAhammou, Jihane Hakam*, Ahmed Ghazza, Ibtissam Hajji, Abdeljalil El
Moutaouakil
Page No. 67-70

Waardenburg syndrome is a rare congenital condition first described in 1951 by Waardenburg. It is
characterized in its most typical form by the association of pigmentation disorders, internal canthal
dystopia and enlargement of the base of the nose. We report two familial cases of waardenburg
syndrome, diagnosed in a 6-year-old girl and her 6-month-old younger brother. Both had complete
irreversible heterochromia, internal canthal dystopia and albinoide fundus. Waardenburg syndrome
is a rare, hereditary entity whose ophthalmologic signs are internal canthal dystopia and
pigmentation disorders such as iris heterochromia and albinoide fundus. Neurosensory deafness,
musculoskeletal abnormalities and Hirschsprung's disease should be systematically sought