achondroplasia

Question 1

what is achondroplasia

Answer 1

• sporadic mutation then autosomal dominant pattern
• associated with short stature
• abnormal cartilage formation

Question 2

pathophysiology and genetic

Answer 2

• mutation in the fibroblast growth factor receptor 3 (FGFR-3)
• results in abnormal cartilage

occurs sporadically - randomly with normal parents - then from then on is autosomal dominant

Question 3

main risk factor

Answer 3

advancing parental age

Question 4

treatment

Answer 4

• no specific
• limb legnthening therapy - iliaroz frames - intramembranous ossification