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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MEDICAL CONDITIONS ASSOCIATED WITH KERSTACONUS

TITILE SOME OF THE MEDICAL CONDITIONS ASSOCIATED WITH KERSTACONUS THEY ARE MARFANS SYNDROME MITRAL VALVE PROLAPSE SYNDROME DOWNS TURNERS ACHONDROPLADIA ATOPIC DERMATITIS S L E

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THE CONCLUSION OF THE CASE OF KERSTACONUS IS THAT WE AS OPHTHALMOLOGISTS SHOULD KNOW WHOLE SCENERIO OF KERSTACONUS THAT IS WHAT ARE MEDICAL CONDITIONS ASSOCIATED WITH THIS DISORDER AND WHST ARE OPHTHALMIC CONDITION ASDOCIATIONS HERE I HAVE...


Concluded Case

7yr male child with achondroplasia comments on xray @Dr. Syam Sundar Patro

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Metaphyseal flaring of femur and tibia. Long fibula-the fibular head present at the level of tibial plateau. Characteristic features of achondroplasia.


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