Paeds Orthopaedics Flashcards
Osteogenesis imperfecta
Brittle bone disease - autosomal dominant
Defect of maturation of type 1 collagen
Multiple fragility fractures, short stature, blue sclera, loss of hearing
X-ray appearance of ostegenesis imperfecta
Thin cortices, osteopenia
Fractures heal with abundant poor quality callus
Deformity
Treatment of osteogenesis imperfecta
Rule out NAI
Splits, traction, stabilise
Osteotomy
Skeletal dysplasia
Short stature - genetic error
Proportionate or disproportionate
Achondroplasia
Commonest form of skeletal dysplasia
Autosomal dominant or sporadic
Short limbs, prominent forehead, wide nose
Lax joints
Treatment of achondroplasia
Genetic testing
Deformity correction
Limb lengthening
GH
Generalised familial joint laxity
Hypermobility, autosomal dominant
Double jointed
Prone to dislocations
Marfan’s syndrome
Autosomal dominant/sporadic mutation of fibrillin gene
Tall stature, long limbs, laxity, high arched palate, scoliosis, pectus excavatum, lens disolcation, retinal detachment, AAA, valve incompetence, pneumothorax
Ehlers-Danlos syndrome
Autosomal dominant mutation in elastin/collagen
Hypermobility, vascular fragility, scoliosis, stretchy skin
Down syndrome
Trisomy 21
Short stature
Joint laxity, recurrent dislocations, C1/2 instability
DMD
X-linked recessive Progressive muscle weakness and wasting Mutation in dystrophin gene (Ca transport) Gower's sign Age 20 - cardiac and resp failure Raised CK
Treatment of DMD
Physio, splint, deformity correction
BMD
X-linked recessive progressive muscle weakness and wasting
Milder - can walk into teens, death 30s/40s
UMN symptoms (CNS)
Weakness, spasticity, hyperreflexia, extensor plantar response
LMN symptoms (anterior horn cells, peripheral nerves)
Weakness, reduced tone, hyporeflexia
CP
Neuromuscular disorder, onset 2-3 years
Insult to immature brain
Missed milestones, learning difficulties
Monoplegic/hemiplegic/diplegic
Spastic CP
Commonest form of CP
UMN symptoms = spasticity, weakness
Ataxic CP
Affects cerebellum = balance, coordination
Athetoid CP
Writhing, problems with speech
MSK problems in CP
Contractures, scoliosis, hip dislocation
Treatment of CP
Physio, splints
Baclofen, botox
Surgery
Spinda bifida
2 halves of posterior arch fail to fuse in first 6 weeks
Deformity, contractures, hip dislocation
Spina bifida occulta
tethering of spinal cord = pes cavus and toe clawing
Dimple or tuft of hair
Spina bifida cystica
Contents herniate (meningocele - meninges, myelomeningocele - SC = neuro deficit)
Hydrocephalus
Closed within 48 hours
Treatment of spina bifida
Closure
Scoliosis correction
Foot deformity correciton
Good foot care
Polio
Viral infection of anterior horn motor cells = LMN deficit
Virus enters GIT = flu like illness = paralysis of 1 limb within days
Paralysis, deformities, limb shortening
Treatment of polio
Splint, shoe raise
Tendon transfer
Arthrodesis
Syndactyly
2 digits fused
Separation