O: Paediatric Orthopaedics Flashcards
what are the 4 congenital disorders?
osteogenesis imperfecta, skeletal dysplasia, marfan’s syndrome, ehlers-danlos syndrome
what is osteogenesis imperfecta?
defect of maturation and organisation of T1 collagen
aetiology of osteogenesis imperfecta?
mutation to T1 collagen genes- COL1A1/ COL1A2
which types of osteogenesis imperfecta are the most severe?
T3 & T4
s/s of osteogenesis imperfecta?
multiple fragility fractures in childhood, short stature with multiple other deformities, blue sclerae, loss of hearing, scoliosis
what are some x-ray findings of osteogenesis imperfecta?
calloused bone healing and thin cortices
mx of osteogenesis imperfecta?
treat fractures, bisphosphonates. no cure
what should you be aware of when treating osteogenesis imperfecta?
non accidental injury and osteopenia as both may result in multiple fracture presentations
what is skeletal dysplasia?
dwarfism
types of skeletal dysplasia?
proportionate, disproportionate (limbs shorter than spine),
which is the most common type of skeletal dysplasia?
Achondroplasia: short limbs, prominent forehead, widened nose
what is Marfan’s syndrome?
autosomal dominant mutation of fibrillin gene
s/s of Marfan’s?
tall stature, disproportionate long limbs, ligamentous laxity, high arched palate, pacts excavatum
main complications of Marfan’s?
aortic aneurysm, cardiac myopathy
what is ehlers- dances syndrome?
heterogenous condition often autosomal dominant of abnormal elastin and collagen formation
s/s of Ehlers-danlos?
profound jt jypermobility,vascular fragility, ease of bruising, jt instability, scoliosis
what is cerebral palsy?
umbrella term for disorders that are apparent at birth that are characterised by non-progressive motor deficits
epi of cerebral palsy?
onset before 2-3yo
aetiology of cerebral palsy?
1/10 due to problems during labour- prematurity, hypoxia, intrauterine infections, cerebral insults, neonatal meningitis
s/s of cerebral palsy?
learning difficulties, failure to achieve developmental milestones, motor issues develop later- typically spastic displegia
what 2 other conditions are often associated with cerebral palsy?
autism and ADHD
what is scoliosis?
sideways curvature of spine
epi of scoliosis?
3% of adolescents, F>M
aetiology of scoliosis
widely unknown, hereditary
- Heuter-Volkmann’s Law
- triangular spine (growth spurt)
- trunk rotation while walking