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Achondroplasia

A case of achondroplasia.it is a variety of short limb dwarfism.the average hight is around 4 ft. There is midface retrusion and frontal bossing. They may also have kyphoscoliosis.the hand is trident and spatulated, all the fingers are of same length.They are of normal intelligence.

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thanks for the interest, comments and your contribution to this case of achondroplasia.lt has enlightened me.

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Achondroplasia dwarfism . The most common type of short-limbed dwarfism. While it's sometimes hereditary, most cases of dwarfism are caused by a genetic mutation. This is why the majority of people with achondroplasia are born to parents of average height. It is caused by a gene alteration (mutation) in the FGFR3 gene. The FGFR3 gene makes a protein called fibroblast growth factor receptor 3 that is involved in converting cartilage to bone. FGFR3 is the only gene known to be associated with achondroplasia.

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Nice example of achondroplasia dwarfism Genetic disorder of FGFR3 leads to above features of short height small hands with small fingers of equal size frontal bossing and trident fingers in x-ray Thanks for sharing

Congratulations! Your case has been selected as Case of the day and you have been awarded 5 points for sharing the case. Keep posting your interesting cases, Happy Curofying!

Very intresting and good case.Rarely seen.very uncommon and present in particular race.

Thank you. Nice informative b Dr Sujan and Dr Dinesh

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Good example of dwarfism with Achondroplasia

Good case present . Thanks for sharing.

Thanks Dr Ramesh Kumar Singh
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Nicely described, informative post

Nice post Thanks for sharing.

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Informative and useful post

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