ACHONDROPLASIA
DOI:
https://doi.org/10.55640/Keywords:
Achondroplasia, dwarfism, FGFR3 mutation, short stature, endochondral ossification, spinal stenosis, limb shortening, orthopedic complications.Abstract
Achondroplasia is the most common form of disproportionate short stature and is caused by a genetic disturbance of endochondral bone formation. The disorder primarily affects the growth of long bones, the spine, and the craniofacial skeleton, while intelligence is usually normal. Achondroplasia is associated with characteristic skeletal features, orthopedic complications, and neurological risks that require long-term multidisciplinary management.
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