Concluded Case

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.

12 Likes

LikeAnswersShare
Concluded answer
thanks for the interest, comments and your contribution to this case of achondroplasia.lt has enlightened me.
All Answers
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.
Thank you doctor
0

View 1 other reply

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
Thank you doctor
0
Good example of dwarfism with Achondroplasia
Good case present . Thanks for sharing.
Thanks Dr Ramesh Kumar Singh
0

View 1 other reply

Nicely described, informative post
Nice post Thanks for sharing.
Thank you doctor
0
Informative and useful post
Thank you doctor
0
Load more answers