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pediatric cases

Discussion in 'Spot Diagnosis' started by bb100, Apr 16, 2013.

  1. bb100

    bb100 Bronze Member

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    diagnosis please ?

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  2. neo_star

    neo_star Moderator

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    Blue sclera due to stretched out sclera allowing underlying dark choroid to be seen.

    [TABLE]
    [TR]
    [TD="class: data, align: right"] Differentials[/TD]
    [/TR]
    [TR]
    [/TR]
    [/TABLE]
    [HR][/HR] [TABLE="width: 100%"]
    [TR]
    [TD]


    1. Associated with high urine excretion
    A. Folling syndrome (phenylketonuria)
    B. Hypophosphatasia (phosphoethanolaminuria)
    C. Lowe syndrome (oculocerebrorenal syndrome; chondroitin-4-sulfate-uria)

    2. Associated with skeletal disorders
    A. Brachmann-de Lange syndrome
    B. Brittle cornea syndrome (blue sclera syndrome)-recessive
    C. Crouzon disease (craniofacial dysostosis)
    D. Hallermann-Streiff syndrome (dyscephalia mandibulooculofacial syndrome)
    *E. Marfan syndrome (dystrophia mesodermalis congenita)
    F. Marshall-Smith syndrome
    G. McCune-Albright syndrome (fibrosus dysplasia)
    H. Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
    I. Osteogenesis imperfecta (van der Hoeve syndrome)
    J. Paget syndrome (osteitis deformans)
    K. Pierre Robin syndrome (micrognathia-glossoptosis syndrome)
    L. Robert syndrome
    M. Silver-Russell syndrome
    N. Werner syndrome (progeria of adults)

    3. Chromosome disorders
    A. Trisomy syndrome
    B. Turner syndrome

    4. Ocular
    *A. Congenital glaucoma
    B. Myopia
    *C. Repeated surgeries
    D. Scleromalacia (perforans)
    *E. Staphyloma
    F. Trauma

    5. Miscellaneous
    A. Ehlers-Danlos syndrome (fibrodysplasia elastica generalisata)
    B. Goltz syndrome (focal dermal hypoplasia syndrome)
    C. Incontinentia pigmenti (Bloch-Sulzberger syndrome)
    D. Lax ligament syndrome
    E. Minocycline-induced
    F. Oculodermal melanocytosis (nevus of Ota)
    G. Pseudoxanthoma elasticum (Grönblad-Strandberg syndrome)
    H. Relapsing polychondritis

    [/TD]
    [/TR]
    [/TABLE]

    ref - BLUE SCLERA
     

  3. bb100

    bb100 Bronze Member

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    differential diagnosis in blue sclera contain every things except one
     

  4. neo_star

    neo_star Moderator

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    it's der under 2) I sneaky:
     

    apparat likes this.
  5. bb100

    bb100 Bronze Member

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    I saw that now

    I. Osteogenesis imperfecta (van der Hoeve syndrome)
     

  6. Emergency medicine Mike

    Emergency medicine Mike Bronze Member

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    Blue sclerae. Osteogenesis imperfecta.
     

  7. bb100

    bb100 Bronze Member

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    Correct Answer :Blue sclerae in Osteogenesis imperfecta
     

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