Tuesday, October 02, 2007

Quiz: Station 5



Please look at this mentally challenged young man's hand and feet and proceed.

Case and pictures contributed by Giant Eagle

6 comments:

  1. pseudo hypoparathroidism

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  2. pseudo hypoparathroidism

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  3. Lawrence Moon Bidel Syndrome,

    Look in the eyes for Retinitis pigmentosa

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  4. polydactyly
    (extra digits)
    Down's syndrome

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  5. Well done , the answer is Laurence Moon Biedl syndrome.

    It is a rare, recessively inherited disorder which affects approximately 1 in 100,000 babies born.

    The main features include visual impairment due to retinitis pigmentosa. They are obese with extra fingers and/or toes (polydactyly) and/or partially fused digits (syndactyly). The male patient may have underdeveloped genitals. Unfortunately, they have
    developmental delay, speech and co-ordination problems, and often, learning difficultie. Other health problems may occur, most frequently kidney (renal) abnormalities.

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