Week 5: Medical Genetics- Connective Tissue

Question 1

Inheritance of OI

Answer 1

AD

Question 2

Two most common genes in OI

Answer 2

COL1A1, COL1A2

Question 3

5 major features of OI

Answer 3

Brittle bones, short stature, fragile skin/vessels, hearing loss, cardiopulmonary complications

Question 4

Along with macrocephaly, what are 3 facial features in patients with OI

Answer 4

Triangular face, blue sclera, dentinogenesis imperfecta

Question 5

Inheritance of Marfan Syndrome

Answer 5

AD

Question 6

Gene in Marfan syndrome

Answer 6

FBN1

Question 7

3 major systems affected in Marfan syndrome

Answer 7

Skeletal, Ocular, Cardiac

Question 8

Inheritance of Loeys Dietz

Answer 8

AD

Question 9

2 major genes in Loeys Dietz

Answer 9

TGFBR1, TGFBR2

Question 10

3 problems with blood vessels in Loeys Dietz

Answer 10

Aneurysms, tortuosity of blood vessels, dilation of aorta

Question 11

Inheritance of EDS

Answer 11

AD

Question 12

Gene in Classic EDS

Answer 12

COL5A1

Question 13

Gene in Vascular EDS

Answer 13

COL3A1

Question 14

3 major features in hyper mobile EDS

Answer 14

Joint hyper mobility, frequent dislocations, chronic pain

Question 15

3 major features in classic EDS

Answer 15

Velvety skin, joint hyper mobility, tissue fragility, muscle hypotonia

Question 16

3 major features of vascular EDS

Answer 16

arterial/bowel/uterine rupture, fragility of blood vessels, keratoconus