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Spot Diagnosis - Misshapen Thorax

Discussion in 'Spot Diagnosis' started by neo_star, Jan 9, 2013.

  1. neo_star

    neo_star Moderator

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    Misshapen Thorax


    chest_zpsf9f47881.jpg

    Identify the syndrome
     

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  2. kangourou

    kangourou Famous Member

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    Given the disproportionately small thorax, I would say this is "Jeune syndrome" also known as asphyxiating thoracic dystrophy
     

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  3. Emergency medicine Mike

    Emergency medicine Mike Bronze Member

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    Pectum excavatus. ATD.
     

  4. neo_star

    neo_star Moderator

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    Ans: Asphyxiating thoracic dysplasia or Jeune syndrome

    This condition is a 'ciliopathy'.

    Other famous ciliopathies - Kartagener syndrome, Bradet-Biedl syndrome, Alstorm syndrome, Situs inversus and Polycystic kidney disease.


    Discussion:
    -Autosomal-recessive illness.
    -Pathogenesis unknown.

    Typical findings:
    -short, horizontally running rib with widening of the costochondral connections; distally emphasized shortened and thickened long bones; three point configuration of the lower edge of the pelvis. Horizontal acetabula; early ossification of the femur head epiphyses
    -cystic tubular dysplasia; renal insufficiency with proteinuria and arterial hypertension; Nephronophtisis, polycystic kidney, usually starting in grade school.

    P.S : Also there is Pectus excavatum as pointed by Dr. E M Mike


    Other causes of narrow chest are - Ellis-van Creveld syndrome and Thantotropic dysplasia


    Credit to Dr. kangourou and Dr. E M Mike for solving the challenge.
     

    Last edited: Jan 11, 2013
  5. dr.angela

    dr.angela Bronze Member

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    Pectum excavatus
     

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