Skeletal Dysplasias = Short stature (Dwarfism no longer used)

Question 1

pathogenesis

Answer 1

abnormal development of bone and connective tissue

Question 2

who gets it?

Answer 2

it’s a genetic error either hereditary or sporadic mutation
may be proportionate or disproportionate (limbs shorter/longer than spine)
>300 types

Question 3

how is it managed?

Answer 3

genetic testing of child and family
orthopaedic: deformity correction (severe scoliosis correction) and limb lengthening
growth hormonal therapy may be appropriate