ANSWER:PAEDIATRIC MCQ 15:Regarding achondroplasia:





15) Regarding achondroplasia:



Achondroplasia is usually a hereditary condition but may also occur sporadically. It
particularly affects the pre-bone cartilage of long bones at birth resulting in Dwarfism. The
affected individuals have a normal trunk length but short stumpy limbs all of the same length.
They also have a large head with a saddle nose. Adult dwarfs have increasing lumbar lordosis,
bow legs, and shortened proximal arms and legs. Intelligence level is usually normal. X-rays
show short dense bones with flared ends with wide epiphysis.


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