Discussion in 'Spot Diagnosis' started by dracomalfoy, Aug 9, 2012.
What's your diagnosis of this case?
Waardenburg syndrome; white forelock, dystopia canthorum and hypertelorism are present.
Yes. It is Waardenburg Syndrome.
There are five major and five minor diagnostic criteria for Waardenburg syndrome.
Sensorineural hearing loss
Iris pigmentary abnormality (two eyes different color or iris bicolor or characteristic brilliant blue iris)
Hair hypopigmentation (white forelock or white hairs at other sites on the body)
Dystopia canthorum (lateral displacement of inner canthi)
First‐degree relative previously diagnosed with Waardenburg syndrome
Skin hypopigmentation (congenital leukoderma/white skin patches)
Medial eyebrow flare (synophrys)
Broad nasal root
Hypoplasia alae nasi
Premature graying of the hair (before age 30)
( source : Wikipedia )
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