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    Paediatric Syndromes

    • Neurofibromatosis
    • Klippel Feil Syndrome (KFS)
    • Sprengel Shoulder
    • Poland’s Syndrome
    • VACTERL Syndrome
    • Arthrogryposis
    • Larsen’s Syndrome
    • Nail Patella Syndrome
    • Marfan’s Syndrome
    • Ehler Danlos Syndrome
    • Congenital Pseudoarthrosis of Clavicle
    • Down’s Syndrome

    Neurofibromatosis

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    What is Neurofibromatosis
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    What are the types of NF?
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    If you suspect Neurofibromatosis, how will you assess?
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    ‼️ Diagnostic Criteria based on NIH (national institute of health) Criteria 2 or more of following 7? [CAFESPOT]
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    What investigations?
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    How will you evaluate this lump?
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    What can NF present with?

    Klippel Feil Syndrome (KFS)

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    What is it?
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    What is the clinical presentation of KFS?
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    What else to look for?

    Sprengel Shoulder

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    What is it caused by?
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    How will you examine this child?
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    Associations of Sprengel Shoulder?
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    What is the pathology?
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    What investigation?
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    How to classify?
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    What do they present with?
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    What are the surgical principles of correction
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    What other treatment options?
    ‣
    How does clavicle resection prevent Brachial plexus injury?
    sprengel.pdf616.4KB
    ‣
    What is the proposed etiology of Sprengel shoulder, KFS, Poland?

    Poland’s Syndrome

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    ‣
    What is Poland's syndrome?
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    Associations with poland's Syndrome?

    VACTERL Syndrome

    ‣
    What is VACTERL syndrome?
    ‣
    Associations with VACTERL Syndrome?

    Arthrogryposis

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    ‣
    Approach to congenital contractures (arthrogryposis)?
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    What are the types of arthrogryposis? Difference? Inheritance?
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    What is AMC?
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    What is distal arthrogryposis?
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    Management of Arthrogryposis?

    Larsen’s Syndrome

    ‣
    What is larsen syndrome?
    ‣
    Clinical findings of Larsen syndrome?

    Nail Patella Syndrome

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    ‣
    What other findings in nail patella syndrome?
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    What is the inheritance of nail patella syndrome?

    Marfan’s Syndrome

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    ‣
    What is Marfan syndrome?
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    What is the diagnostic criteria?
    ‣
    What are the key clinical signs for Marfan’s?
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    What are the orthopaedic issues?
    ‣
    Other systemic manifestations?

    Ehler Danlos Syndrome

    ‣
    What is Ehler-Danlos Syndrome?
    ‣
    What are the other COL mutations?
    ‣
    Clinical findings?
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    Assuming this is First presentation to you, what will you do next?

    Congenital Pseudoarthrosis of Clavicle

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    ‣
    What is pseudoarthrosis of clavicle?
    ‣
    Differential diagnosis?
    ‣
    What is the embryology of clavicle?
    ‣
    Incidence? which side?
    ‣
    Presentation?
    ‣
    Associated conditions?
    ‣
    What condition is associated with bilateral pseudoarthrosis?
    ‣
    Management?

    Down’s Syndrome

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    What is the genetic defect?
    ‣
    What associated ortho conditions?
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