1 - Histology

Question 1

Repeated fractures, brittle bones, abnormal teeth, thin skin, weak tendons, blue sclera, progressive hearing loss, DX?

Answer 1

Osteogenesis Imperfecta

Type I Collagen

Question 2

Short stature, restricted joint mobility, ocular changes (blindness), wide metaphyses, and joint abnormality seen in radiographs, DX?

Answer 2

Kniest Dysplasia
Achondrogenesis, type 2
Type II Collagen

Question 3

Skeletal deformations characterized by modifications of the vertebral bodies and chondrodysplasia metaphyses of long bone, DX?

Answer 3

Schmid Metaphysal chondrodysplasia

Type X Collagen

Question 4

Skeletal deformations resulting from impaired endochondral ossification and dysplasia, premature degenerative joint disease, DX?

Answer 4

Multiple Epiphyseal Dysplasia (MED)

Type IX Collagen

Question 5

Short stature, restricted joint mobility, ocular changes (blindness), wide metaphyses, and joint abnormality seen in radiographs, craniofacial and skeletal deformations, severe myopia, retinal detachment, and progressive hearing loss. DX

Answer 5

Weisbacher-Zweymuller syndrome, Stickler’s Syndrome
Type XI Collagen
Includes additional mutations of type II collagen