This 23 year old male patient with a very strong family history of renal disease, What is this finding? What is the abnormality in this condition? Waht are the inheritance patterns?
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Answer:
1. This is a finding seen in a case with keratoconus. Known as MUNSONs sign, it is observed as a indentation in the lower eyelid produced by the keratoconus when the patient looks downwards.
2. The basic diagnosis is Alport syndrome.
3. Most common inheritence pattern of Alport syndrome is X-linked. However, there are autosomal recessive and Autosomal dominant forms as well.
Answer:
1. This is a finding seen in a case with keratoconus. Known as MUNSONs sign, it is observed as a indentation in the lower eyelid produced by the keratoconus when the patient looks downwards.
2. The basic diagnosis is Alport syndrome.
3. Most common inheritence pattern of Alport syndrome is X-linked. However, there are autosomal recessive and Autosomal dominant forms as well.
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