Skeletal Dysplasia

Question 1

defintion

Answer 1

medical name for short stature no longer allowed to be called dwarfism

Question 2

cause

Answer 2

genetic mutation which causes abnormal development of bone and connective tissue

Question 3

2 categories

Answer 3

can be proportional where the spine and the limbs are proportionately short or disproportional where the limbs are either shorter or longer than the spine

Question 4

most common type of skeletal dysplasia is

Answer 4

achondroplasia which occurs sporadically in 80% of cases but can be inherited autosomal dominantly, it causes disproportionately short limbs in comparison with the spine, a prominent forehead widened nose, but IMPORTANTLY completely normal mental development

Question 5

other types of skeletal dysplasia cause

Answer 5

• learning difficulties
• spine and limb deformities
• spinal cord compression (myelopathies)
• atlanto-axial instability
• tumour formation particularly haemangiomas
• intra-uterine or premature death

Question 6

treatment

Answer 6

• correction of deformities and limb lengthening surgery

- growth hormone use is controversial and the problem of the disease isn’t a lack of growth hormone but sometimes used