Bones

[shisha]

A dwarf man comes whose extremities are small whereas his head and trunk are of normal size. He has 2 daughters and is NOT mentally challenged.What should come in your mind instantaneously.....that it is a case of?

A]Osteogenesis imperfecta
B]Achondoplasia
C]Osteopetrosis
D]Osteitis deformans

[IMG SURVIVOR]

A- is congenital, and they are fragil= ALOT of fractures colagen type1

B- is the answer theres a problem with fibroblast gene, they also have a defect in the chondrocytes, is AD= autosomal dominant, but also has another genetic important Hy what is it?

c- You get that from kidney failure, and other diseases

D- thats pagets disease

[shisha]

Achondroplasia is most common cause of inherited dwarfism.It is Autosomal dominant disorder and has mutation in fibroblast growth factor receptor 3 gene.The activation of FGFR3 inhibits cartilage synthesis at the epiphysial growth plates resultimg in decreased enchondral bone formation and thus there is premature ossifiation of growth plates......long bones are affected.