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.. Da Fuq is this?

Discussion in 'Spot Diagnosis' started by dracomalfoy, Aug 9, 2012.

  1. dracomalfoy

    dracomalfoy Famous Member

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    What's your diagnosis of this case?



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  2. J.P.C. Peper

    J.P.C. Peper Bronze Member

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    Waardenburg syndrome; white forelock, dystopia canthorum and hypertelorism are present.
     

  3. lakmalDJ

    lakmalDJ Famous Member

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    Waardenburg syndrome
     

  4. dracomalfoy

    dracomalfoy Famous Member

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    Yes. It is Waardenburg Syndrome.


    There are five major and five minor diagnostic criteria for Waardenburg syndrome.

    Major:
    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

    Minor:
    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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