Children Orthopaedics Flashcards
What is osteogenesis imperfecta
Brittle bone disease caused by inherited defect in type 1 collagen
Why is type 1 collagen important
It makes up for most of the composition of bone
Signs of osteogenesis imperfecta
multiple low energy fractures in childhood
short stature
deformities
blue sclerae
loss of hearing
What is skeletal dysplasia
Short stature (dwarfism) due to genetic error leading to abnormal development of bone
Most common type of skeletal dysplasia
Achondroplasia
What is achondroplasia
Genetic condition affecting fibroblast growth factor receptor slowing down the growth of bone
Classic signs of achondroplasia
Prominent forehead
Widened nose
disproportionately short limbs
Management of skeletal dysplasia
Genetic testing for the family
Deformity correction
Growth hormones therapy
What is familial joint laxity
Hypermobility of joints, runs in family
What may occur in patients with familial joint laxity
Recurrent dislocations
More prone to soft tissue injuries
What can people with familial joint laxity perform
Voluntary dislocation of the shoulder
Inheritance pattern of familial joint laxity
Autosomal Dominant
Inheritance pattern of Marfan’s syndrome
Autosomal / sporadic mutation
Which gene does Marfan’s syndrome affect
fibrillin gene
Fibrillin is a glycoprotein
Signs of Marfan’s syndrome
Ligamentous laxity
Disproportionately long limbs
Tall stature
Scoliosis
Eye problems
Pectus excavatum (flattening of chest)
What cardiac conditions are Marfan’s syndrome patients more prone to
Aortic aneurysm
Mitral regurgitation
What murmur is heard in mitral regurgitation
pansystolic murmur best heard at apex
Signs of Ehlers Danlos syndrome
Hyperlaxity of joint
Easy bruising
Scoliosis
What happens to the chromosomes in Down syndrome
Trisomy (extra copy) of chromosome 21
Signs of Down syndrome
Hyperlaxity of joints
Recurrent dislocations
short stature
Which joint is most prone to recurrent dislocations in patients with down syndrome
patella
Why do muscular dystrophies only affect boys
Because these are X linked recessive inherited disorders
Life expectancy of Duchenne muscular dystrophy
death in early 20s
Life expectancy of Becker’s muscular dystrophy
death in 30s or 40s
What are the muscular dystrophies and how do these conditions cause death
Progressive muscle weakening and wasting
Progressive muscle weakness -> no longer can walk -> progressive cardiac and resp failure -> death
Which structures are affected in spastic cerebral palsy
Motor cortex
Upper motor neurones
Corticospinal tract
What is spastic cerebral palsy
A type of cerebral palsy with signs of muscle weakness and spasticity
Function of motor cortex
Region of cerebral cortex involved in the planning, control and execution of voluntary movements
What is the corticospinal tract
Major neuronal pathway providing voluntary motor function
What are the upper motor neurones
The nerves in CNS which carry impulses for movement
