a child came yesterday,there is hearing loss in left ear & some hypopigmentation in the neck also present, Diagnosis???

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waardenburg syndrome with the following features 1. white forelock 2. telecanthus 3. hearing loss 4. heterochromia 5. low set hairline and eyebrow 6. patches of hypopigmentation. .. accordingly can be classified into 4 types..

@ chinta,u r third year ryt,so it's there in ENT Dhingra text book,one pic is also there

great case. thanks for sharing.

osteogenesis imperfecta

wardenburg syndrome

I have got a doubt..if melanin synthesis is defective..heterochromia iris and depigmentation explains it...but why there is deafness?? what is the cause if deafness here,is there any other gene defect..plz clarify my doubt..

melanin is also required in the functioning of middle ear especially the striae vascularis of the cochlea. . that's why the hearing loss
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this is a typical case of wardenburg syndrome, in which there is defect in melanin synthesis leading to hypopigmentation (heterochromia iridis in this pt)and hearing loss.

Wardenburg syndrome , hetrochromia iridium (iris color changes), telecanthus, hearing loss, a forlock of white hair on frontal region.

forelock of white hair, heterochromia iridis,dystopia canthorum,hypopigmentation,hearing loss..typical type2wardenberg syndrome

Dr.balaji srinivasan how come it be leucocoria,it is heterochromia iridis,for leucocoria pupil area will be white...

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