Achondroplasia

An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition is characterized by inappropriate cartilage growth plate differentiation and deficient endochondral growth, manifest clinically with severe rhizomelic short stature, short limbs, characteristic facies with frontal bossing and midface hypoplasia.

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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 retru...See More

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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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VSS.MEDICAL COLLEGE & HOSPITALS.

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Patna Medical College.

MD

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