Congenital Disorders

Question 1

Connective tissue disorders

Answer 1

Genetic disorders of mainly type 1 collagen synthesis affecting bone, tendons and ligaments

Question 2

Osteogenesis Imperfecta

Answer 2

Brittle bone disease

Question 3

Osteogenesis imperfecta aetiology

Answer 3

Defect in the maturation and organisation of Type 1 collagen in bone

Question 4

Osteogenesis Imprefecta inheritance

Answer 4

Majority- autosomal dominant

Rarer causes can be autosomal recessive and are either fatal in the pre-natal period or are associated with spinal deformities

Question 5

osteogenesis imperfecta presentation

Answer 5

Multiple fragility fractures
Short stature
Multiple deformities
Blue sclerae
Loss of hearing

Question 6

osteogenesis imperfecta bone appearance

Answer 6

Thin and gracile
THin cortices
Osteopenia
Fractures heal poorly with poor quality callus

Question 7

Osteogenesis imperfecta treatment

Answer 7

Fractures

• Splintage
• Traction
• Surgical Stabilisation
• Osteotomy
• Intramedullary stabilisation for correction via so field procedure

Question 8

Marfan’s Syndrome

Answer 8

Inherited disorder of connective tissue

Question 9

Marfan’s Syndrome Aetiology

Answer 9

Autosomal Dominant

Mutation or defect in fibrillar gene causing tall stature with disproportionately long limbs and ligamentous laxity

Question 10

Marfan’s Syndrome Features

Answer 10

high arched palate
Scoliosis
Pectus Excavatum 
Eye problems
Aortic Aneurysm
Cardiac valve incompetence
- main cause of premature death
Spontaneous Pneumothorax
Abical Blebs
Arachnodactyly
Long limbs

Question 11

Skeletal dysplasia

Answer 11

Dwarfism

Question 12

Skeletal dysplasia aetiology

Answer 12

genetic error which impacts bone and connective tissue development

Question 13

Skeletal dysplasia types

Answer 13

Proportionate

Disproprotionate

• Achondroplasia
• Most common

Question 14

Achondroplasia Presentation

Answer 14

Autosomal dominant
Prominent forehead
Disproportionately short limbs 
Widened nose
Joint laxity
Normal mental development

Question 15

Skeletal dysplasia treatment

Answer 15

Deformity correction (scoliosis)
Limb lengthening
Potential growth hormone therapy

Question 16

Muscular dystrophies

Answer 16

X-linked recessive rare condition causing progressive muscle weakness

• Duchennes
• becker’s

Question 17

Duchenne Muscular Dystrophy Aetiolgy

Answer 17

Defect in dystrophin gene responsible for calcium transport

Question 18

Gower’s Sign

Answer 18

Signs of muscle weakness in young boys with Duchenne Muscular Dystrophy

• Patient gets on all fours
• Progress to put hands on knees before standing up

Question 19

Duchenne Muscular Dystrophy Consequences

Answer 19

Patient die ~20

Due to respiratory and progressive cardiac failure

Question 20

Duchenne Muscular Dystrophy Diagnosis

Answer 20

Raised serum CK

Abnormalities on biopsy

Question 21

Duchenne Muscular dystrophy treatment

Answer 21

Supportive
Physiotherapy
Splintage
Deformity correction
Spinal Surgery

Question 22

Becker’s Muscular Dystrophy characteristics

Answer 22

Milder version of Duchenne’s

Can survive into 30’s and 40’s

Question 23

Ehlers-Danlos Syndrome

Answer 23

Rare group of inherited disorders of the connective tissue involving abnormal or deficient collagen

Question 24

Ehlers-Danlos Syndrome Aetiology

Answer 24

Autosomal Dominant

Heterogenous

Defect in elastin and collagen formation

Question 25

Ehlers-Danlos Syndrome presentation

Answer 25

Joint hypermobility Vascular fragility - bruising and bleeding Scoliosis

Question 26

Ehlers-Danlos Syndrome Treatment

Answer 26

Bony surgery for dislocations | - Issue die to vascular problems and poor healing