Child Diagnosed to have Achondroplasia

Friday, January 15, 2010




These are the Three X-rays taken from the boy who was previously Diagnosed to have Achondroplasia.This time the child was admitted to the Paediatric ward because he was having Ataxia and Obstructive Sleep Apnoea which were appeared 2weeks back.

Describe the characteristic Radiological findings in these X ray?
What  would be the most probable reason for his new developing features?





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1 Responses to Child Diagnosed to have Achondroplasia

  1. Anonymous Says:
  2. Achondroplasia is an autosomal dominant genetic disorder in which there is an abnormality in cartilage formation.

    1st X-ray shows small, square-shaped iliac wing. Sciatic notch narrow. Femur short and thick with irregular growing ends.

    X-ray skull shows large skull with relatively small base

    X ray hand shows broad hand with short metacarpals and phalanges. Extended fingers show trident configuration.

    Obstructive sleep apnoea may have developed due to structural abnormalities occuring during facial growth

    Ataxia may be due to cervicomedullary compression

     

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