Collagenopathies

Question 1

Ehlers-Danlos Syndrome due to Defective type 3 collagen

Answer 1

Form of EDS: vascular
Clinical features: skin & vascular wall fragility
Most severe form - potential lethal artery rupture

Question 2

Ehlers-Danlos Syndrome due to

Defective collagen type 5

Answer 2

Form of EDS: classical

Clinical features: joint hyper mobility, skin hyper extensibility

Question 3

Osteogenesis Imperfected type 1

Answer 3

Name: OI Tarda
Severity: most mild
Clinical features: long bone fx after minor trauma in early childhood, blue sclera, normal height, possible adulthood hearing loss

Question 4

Osteogenesis imperfecta type 2

Answer 4

Name: OI Congenita
Severity: most severe
Clinical features: underdeveloped lungs, abnormally small, fragile rib cage, death in utero/neonatal due to respiratory problems

Question 5

Osteogenesis type 3 & 4

Answer 5

Severity: medium

Clinical features: scoliosis, dental problems