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Achondroplasia, the commonest type of dwarfism, is an autosomal-dominant skeletal
dysplasia in which the primary defect is endochondral bone formation.
Characteristic clinical findings are large head size, rhizomelic shortening of the limbs,
frontal bossing & flat nasal bridge with X-ray findings of brachycephaly, thickness of long
bone, squared iliac bone and decreased interpediculate distance of spine at distal lumbar level
compared with proximal.
Authors experienced a... |
