20f short stature with out nails and underdeveloped? phalanges came with complaint of DOE grade 3 . hb9.7,tlc 12.4 k, cxray attached showing cardiomegaly. suggest DX and mx

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Achondroplagia.. 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. Achondroplasia 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..

Sir Answer with explanation is marvellous
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Achondroplsia

Thanx dr P.r Das and 2 others
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Achondroplasia

ACHONDROPLASIA

Thanks Dr Pushkar Bhomia
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Achondroplagia

Tnx Dr Leel
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Achondroplsia

Achondroplagia

Achondroplagia

Achondroplasia

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