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Syndrome spot diagnosis

Discussion in 'Spot Diagnosis' started by bb100, Apr 23, 2013.

  1. bb100

    bb100 Bronze Member

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    This syndrome is seen 1 per 13700 births

    [​IMG]
     

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  2. neo_star

    neo_star Moderator

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    Re: Syndromes

    the glossoptois really stands out and the first thing that came to mind was...Down's syndrome child ( doesn't look like, hypothyroid child )

    ....but, since u mentioned 1 per 13,700, i go 4 'Beckwith-Wiedemann Syndrome'

    BW.jpg
     

    Last edited: Apr 23, 2013
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  3. Hasan

    Hasan Bronze Member

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    Though after saying just the macroglossia, flat nasal bridge my mind also crossed over Down's syndrome......but that's not for sure after seeing the prevalence.....
     

  4. Walkov

    Walkov Famous Member

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    Gaucher???
     

  5. bysmith

    bysmith Famous Member

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    Down syndrome. Because he has epicanthal fold, macroglossy and also a flat facies
     

  6. Stefan Misaca

    Stefan Misaca Famous Member

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    Well in down syndrome you can see :
    Signs and symptoms :
    Congenital heart disease
    Cancer
    Thyroid disorders
    Gastrointestinal
    Infertility
    Eye disorders
    Hearing disorders
    The newborn has small round skull (brachycephalism) with flattened occiput and large fontanels which will close late. The face is round, flat facial profile is due to their bone hypoplasia of the nose and the forehead is bulging

    And a few more, cant remember, but for BWS (beckwith widemann syndrome) we have :
    Large birth weight and length (I can say here we can see if we look at his superior member )
    Hypoglycemia in the newborn period (we cant see here :D)
    Macroglossia (we can see this sign on this picture)
    Maloclussion
    Omphalocele
    Nevas Flammeus (alias named "stork bite" as neo_star said)


    Dx : beckwith widemann syndrome
     

    Last edited: Apr 23, 2013
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  7. Emergency medicine Mike

    Emergency medicine Mike Bronze Member

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    Beckwith wiedemann syndrome.
     

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  8. neo_star

    neo_star Moderator

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    u r only supposed to post in English, in the spot diagnosis section. Simple English will do and no spamming other wise i will delete ur posts and ban u....then u will not 'want to love' me P:
     

  9. bb100

    bb100 Bronze Member

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    Correct diagnosis :
    beckwith-wiedemann syndrome
     

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  10. charlottediaz

    charlottediaz Young Member

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    This is my beautiful baby boy and im not sure how he made it on this site but im glad to see how interested you are in learning his diagnosis. He was genetically diagnoised with Beckwith-Weidemann syndrome. He had his tongue reduction at age 6 months, he had a hernia repair at 18 months as well as a hypospadius correction. He is very smart and gets monitored closely. He'll be 2 next week and has been doing excellent with all exams.
     

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  11. indra

    indra Bronze Member

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    beckwith wideman syndrome
     

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