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Medical Syndrome

Discussion in 'Spot Diagnosis' started by bb100, Apr 26, 2013.

  1. bb100

    bb100 Bronze Member

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    this syndrome is almost always fatal at birth either because of pulmonary hypoplasia or neonatal renal failure .
    Diagnosis?

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  2. neo_star

    neo_star Moderator

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    Re: Syndromes

    Meckel–Gruber syndrome

    - this is a ciliopathy and all the seemingly unconnected pathology stems from there. Cilia are very imp. in developing human and animal embryos...they r imp. in migration of not just cells ( at a microscopic scale ) but also, organs / organ systems ( at a macroscopic scale ), closure of various body cavities ex. neuropre, ant. body wall etc. and also in apoptosis ( so that we don't have duplication of tissue )

    some examples of ciliopathies will help understand the problem

    1) kartagener syndrome ( situs inversus + ....... ) --> migration problem
    2) Bradet-beidel syndrome ( polydactyly + .... ) ---> apoptosis problem
    3) polycystic kidneys --> migration problem ( ureteric bud fails to meet metanephric blastema )

    what we see in the constellation of seemingly uncnnected findings in 'Meckel–Gruber syndrome' r in fact connected to each other.

    a) & c) have a potter-like facies sec to oligohydroamnios
    b) shows a large occipital encephalocele
    d) & e) shows postaxial polydactyly
    f) fetal ultrasound showing encephalocele
    g) fetal us, possibly showing polycystic kidneys
     

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  3. bb100

    bb100 Bronze Member

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    Correct answer :Meckel-Gruber syndrome (MGS)

    Meckel-Gruber syndrome is classically characterised by the triad of:

    renal cystic dysplasia (multiple renal cysts) (present most cases)
    occipital encephalocoele / holoprosencephaly (~ 70%)
    post-axial polydactyly (usually hexadactyly) (~ 65%)
     

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