5. Bones & Joints Path I

Question 1

A 22 year old woman comes to her doctor. She shows her doctor her “party trick” she is able to bend her hand all the way backwards she is able to touch the back of her wrist. On psychical examination the patient is notable for blue sclerae while limb and joints are of normal length. What is a complication associated with the patients condition?

A. Increased risk of fractures
B. Aortic Dissection 
C. Mitral Valve prolapse
D. Anemia 
E. Ectopia lentis 

RFA

Answer 1

B. Aortic Dissection- the patient has Ehler-Danlos Syndrome as noted by hyper-mobile joints and blue sclerae. The complication of this condition is Aortic dissection ( also a complication of Marfan’s

A. Increased risk of fractures- osteogenesis imperfecta patient would have blue sclerae but wouldn’t have hyper-mobile joints

C. Mitral valve prolapse- would be Marfan’s,would present with long tapering finger and joints.

D. Anemia- complication of Osteoporosis due to inadequate hemtopoiesis patient would present with “thick bones”

E. Ectopia lentis- is related to Marfan’s patient would present with long tapering finger and joints.

Question 2

A 35 year old man comes to the doctor he is quite short limbs and ribs. He has a normal head, IQ and reproductive system. What is the likely cause of his condition?

A.  Deficiency in type I collagen synthesis 
B. Mutation in Fibrillin gene
C. Dysfunction of carbonic anhydrase 
D. FGFGR3 Mutation 
E. Vitamin C deficiency 

RFA

Answer 2

Ans. D FGFGR3 Mutation- the patient has anchrondoplasia (dwarfism)

A. osteogenesis imperfecta

B. Marfan’s

C. Osteopetrosis

E. Vit C Def- increased risk of micro-fractures and bony deformities