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Spot Diagnosis - Dwarfism

Discussion in 'Spot Diagnosis' started by neo_star, Jan 11, 2013.

  1. neo_star

    neo_star Moderator

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    Achondroplasia-lookalike_zps33d24274.jpg

    click on image to enlarge it
     

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    Last edited: Jan 11, 2013

  2. Mishary almalkey

    Mishary almalkey Active member

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    Ellis–van Creveld Syndrome
     

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  3. Emergency medicine Mike

    Emergency medicine Mike Bronze Member

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    Ellis–van Creveld syndrome.
     

  4. dr.angela

    dr.angela Bronze Member

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    Ellis–van Creveld syndrome
     

  5. neo_star

    neo_star Moderator

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    Ans: Ellis–van Creveld syndrome aka chondroectodermal dysplasia or mesoectodermal dysplasia

    Apart from the features shown in the image, the other gross feature that distinguishes this condition from Achondroplasia is the narrow thorax.

    Other conditions with a disproportionately narrow thorax is - Jeune syndrome and Thanotropic dysplasia.

    To summarise - It involves numerous anomalies including post-axial polydactyly, congenital heart defects (most commonly an atrial septal defect producing a common atrium, occurring in 60% of affected individuals), pre-natal tooth eruption, fingernail dysplasia, short-limbed dwarfism, short ribs, cleft palate, and malformation of the wrist bones (fusion of the hamate and capitate bones).

    Also, unlike Achondroplasia which is Autosomal Dominant, this condition is autosomal recessive.

    Full credit to Dr. Mishary almalkey for clinching the diagnosis first.

    Another condition which is charecterised by ' short limb - dwarfism ' is ' Metatropic Dysplasia '

    Metatropicdysplasia_zpsa7da0e29.jpg

    [FONT=&amp]but they have progressive kyphoscoliosis and joint restriction; they may also have cervical instability.

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