Week 5: Medical Genetics- Skeletal Dysplasia

Question 1

Why are some skeletal dysplasias lethal?

Answer 1

Small rib cage = pulmonary hypoplasia

Question 2

Inheritance of Ellis Van Crevald

Answer 2

AR

Question 3

What type of dwarfism in Ellis Van Crevald

Answer 3

Short-limb

Question 4

3 major features of Ellis Van Crevald

Answer 4

Polydactyly, ectodermal dysplasia, deal abnormalities

Question 5

Inheritance of Pseudoancondroplasia

Answer 5

AD

Question 6

What type of dwarfism in pseudoachondroplasia?

Answer 6

Short-limb

Question 7

3 main features of Pseudoachondroplasia

Answer 7

Waddling gait, chronic joint pain, hypermobile joints

Question 8

Inheritance of Achondroplasia

Answer 8

AD

Question 9

What type of dwarfism in Achondroplasia?

Answer 9

Short-limb

Question 10

3 major features of Achondroplasia

Answer 10

Trident hands, lumbar lordosis, characteristic face

Question 11

Inheritance of Spondyloepiphyseal dysplasia

Answer 11

AD

Question 12

What type of dwarfism in Spondyloepiphyseal dysplasia

Answer 12

Short-trunk

Question 13

3 major features of Spondyloepiphyseal dysplasia

Answer 13

Disproportionate stature, myopia, sometimes cleft palate/club feet

Question 14

Inheritance of Morquio Syndrome

Answer 14

AR

Question 15

What type of dwarfism in Morquio syndrome

Answer 15

Short trunk

Question 16

3 major features of Morquio syndrome

Answer 16

Dysostosis multiplex, atlantoaxial instability, valvular heart disease, corneal clouding

Question 17

Treatment for Morquio Syndrome

Answer 17

ERT

Question 18

Inheritance of Cartilage Hair Hypoplasia

Answer 18

AR

Question 19

What type of Dwarfism in Cartilage hair hypoplasia

Answer 19

Short trunk

Question 20

3 major features in Cartilage hair hypoplasia

Answer 20

Blond/fine hair, defective T-cell immunity, GI deformities