Genetic musculoskeletal disorders
Achondroplasia
Achondroplasia is a form of osteochondroplasia in which the arms and legs are abnormally short.
Commonest form of true dwarfism.
Congenital, usually obvious by age 1.
M = F
Inherited in an autosomal dominant fashion, most cases however are sporadic. The genetic mutation is within the fibroblast growth factor receptor −3 gene.
Disproportionate shortening of the long bones of the limbs with a normal trunk length. The head is large with a prominent forehead and a depressed bridge of the nose causing a saddle shaped nose. Intelligence is normal. There is a large lumbar lordosis, which causes prominent buttocks, flexed hips and bowed legs. A tri-dent deformity of the hands may be present.
Skeletal survey allows accurate measurement of the long bones.
Patients may develop neurological problems due to stenosis of the spinal canal; this may require surgical intervention. Leg lengthening procedures and genu varum correction may be considered.
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