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Spot Diagnosis

Discussion in 'Spot Diagnosis' started by Egyptian Doctor, Apr 4, 2013.

  1. Egyptian Doctor

    Egyptian Doctor Moderator Verified Doctor

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    what is your medical diagnosis for this case ?

    Spot Diagnosis.jpg
     

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  2. Gloggglogg

    Gloggglogg Active member

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    Noonan Syndrome with gastric feeding tube probably due to difficulty swallowing and poor appetite (commonly seen in Noonan).
     

  3. Emergency medicine Mike

    Emergency medicine Mike Bronze Member

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    Noonan syndrome.
     

  4. neo_star

    neo_star Moderator

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    noonan_syndrome.jpg

    Xtra Edge on Noonan Syndrome

    Human growth hormone has resulted in improvement in growth velocity comparable to that seen in patients with Turner syndrome without adverse effects on cardiac ventricular wall thickness. Increased adult height after growth hormone treatment has been reported in a few patients. Patients with Noonan syndrome and demonstrable PTNP11 mutations grow less well and are less responsive to growth hormone treatment than those without mutations. They have lower insulin-like growth factor-1 and higher growth hormone levels, suggesting the possibility of partial growth hormone resistance due to postreceptor signaling defects.

    for feeding difficulty and possible solutions refer here - http://www.noonansyndrome.co.uk/docs/pdf_docs/Feeding_Problems_in_NS_2004_Website.pdf

    ref- Nelson Pediatrics, 19th ed, chp 577

    3 syndromes that closely mimic NS

    Phenotypic features of NS overlap with other syndromes involving the RAS-MAPK pathway, such as Leopard syndrome and cardio-facio-cutaneous syndrome.

    Turner's syndrome
     

  5. Egyptian Doctor

    Egyptian Doctor Moderator Verified Doctor

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    Answer : Noonan Syndrome
     

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