Collagenopathies

Question 1

Type I

Answer 1

Osteogenesis Imperfecta

repeated fractures, brittle bones, blue sclera, progressive hearing loss

Question 2

Type II

Answer 2

Kniest Dysplasia; Achondrogenesis type II

short stature, restricted joint mobility, ocular changes leading to blindness, wide metaphysis

Question 3

Type III

Answer 3

Ehlers-Danlos Type VI

hypermobility of joints, pale thin skin, severe bruisability, rupture of vessels and internal organs can lead to death

Question 4

Type IV

Answer 4

Alport’s Syndrome

hematuria from changes in glomerular basement membrane of kidney, ocular lesions, progressive hearing loss

Question 5

Type VII

Answer 5

Kindler’s Syndrome

severe blistering and scarring of skin after minor trauma from absence of anchoring fibrils

Question 6

Type IX

Answer 6

Multiple Epiphyseal Dysplasia (MED)

skeletal deformations from impaired endochondral ossification and dysplasia, premature degenerative joint disease

Question 7

Type X

Answer 7

Schmid Metaphysal Chondrodysplasia

skeletal deformations characterized by modifications of vertebral bodies and chondroplasia metaphysis of long bones

Question 8

Type XI

Answer 8

Weissenbacher-Zweymuller/Stickler’s Syndrome

same as type II, craniofacial and skeletal deformations, severe myopia, rentinal detachment, and progressive hearing loss

Question 9

Type XVII

Answer 9

Generalized Atrophic Benign Epidermolysis Bullosa (GABEB)

blistering skin disease with mechanical separation from faulty hemidesmosomes, skin atrophy, nail dystrophy, and alopecia