Path- Soft Tissue, Bone, Cartilage

Question 1

What causes Cretinism?

Answer 1

Maternal iodine deficiency

Question 2

Clinical Presentation of Creatinism

Answer 2

Linear growth severely impaired
Failure of frontal closure of skull
Chondrocytes do not follow orderly progression
Severe mental retardation

Question 3

What causes Morquio Syndrome?

Answer 3

Mucopolysaccharidosis 4 caused by deposition of glucosaminoglycans in developing bones, severe form of dwarfism

Question 4

Clinical Presentation of Morquio

Answer 4

Dental Defect with mental retardation

Question 5

Anchondroplasia

Answer 5

Autosomal dominant inherited dwarfism, caused by arrest in growth plate
Defect in paracrine signaling

Question 6

What causes Osteogenesis Imperfecta

Answer 6

Brittle Bone Disease caused by deficiency in Type 1 collagen

Question 7

Clinical presentation of OI

Answer 7

Multiple fractures and poorly formed skeletal structure

Blue Sclera

Question 8

Osteopetrosis

Answer 8

Rare genetic disease that has decreased osteoclasts or function

Question 9

Clinical presentation of Osteopetrosis

Answer 9

Diffuse skeletal sclerosis and stone-like quality of bone, however the bones are very brittle

Question 10

Classification of Ostepetrosis

Answer 10

Autosomal recessive- malignant

Autosomal dominant- benign

Question 11

Osteoporosis

Answer 11

Decrease in bone density and increase in porosity, seen commonly in post menopausal women
High susceptibility to fractures

Question 12

Local Osteoporosis

Answer 12

Due to disuse

Question 13

Diffuse Osteoporosis

Answer 13

Due to metabolic bone disease

Question 14

Senile Osteoporosis

Answer 14

Most common form due to loss of trabecular bone which gives integrity due to aging of person
Loss of osteoblast regeneration or ability