Children's orthopedics Flashcards
What three classes of congenital diseases do we need to know?
Skeletal
Muscular dystrophies
Connective tissue disorders
What are the two congenital skeletal diseases we need to know?
Osteogenesis imperfecta (Brittle Bone Disease) Skeletal dysplasia
What is osteogenesis imperfecta?
Autosomal dominant defect in type 1 collagen leading to brittle bones.
How does osteogenesis present?
Multiple fractures (low energy), short stature, deformities, blue sclera, loss of hearing, can be fatal.
How do you treat osteogenesis imperfecta?
Treat fractures with splint, traction and stabilization.
What is skeletal dysplasia?
Short stature. Do NOT use ‘Dwarfism’!!!
Abnormal development of bone and connective tissue that can be proportional is disproportional.
What is the most common form of skeletal dysplasia?
Achondroplasia- Short limbs and large nose and forehead.
How do you treat skeletal dysplasia?
Treat deformities and can give growth hormone therapy.
What are the two muscular dystrophies we need to know?
Duchenne Muscular Dystrophy
Becker’s Muscular Dystrophy
Describe the genetics of muscular dystrophies.
Rare
X-linked
Recessive
What causes Duchenne Muscular Dystrophy?
Ca2+ transporter deformation resulting in muscle weakening.
How does Duchenne Muscular Dystrophy present?
Difficulty standing at young age
Can’t walk by 10
Cardiac and resp failure in 20s
How do you diagnose Duchenne Muscular Dystrophy?
Raised serum creatinine phosphokinase and muscle biopsy.
How can you treat Duchenne Muscular Dystrophy?
Physio, splint and correction can prolong mobility
What is Becker’s Muscular Dystrophy?
Similar to DMD except milder and has a teenage onset.
What are the three connective tissue disorders we need to know?
Generalised Joint Laxity (Double Jointedness)
Marfan’s Syndrome
Ehlers-Danlos Syndrome
What is generalised joint laxity?
Double jointedness
Autosomal dominant condition found in ~5% of people.
What are the problems with generalised joint laxity?
More prone to soft tissue injury and dislocations.
What is Marfan’s syndrome?
Autosomal dominant condition resulting in a tall person with disproportionately long limbs.
What complications are associated with Marfan’s syndrome?
Lax ligaments High palate Sclerosi and pectus excavatum Eye problems Aortic aneurysm and valve problems
What is Ehlers-Danlos syndrome?
An autosomal dominant disease resulting in abnormal elastin and collagen.
What are some of the complications of Ehlers_Danlos syndrome?
Joint hypermobility
Easy bruising
What are the only two recessive congenital diseases we need to know?
Duchenne Muscular Dystrophy
Becker’s Muscular Dystrophy
What are the three neuromuscular diseases we need to know?
Cerebral Palsy
Spina Bifida
Polio
What is polio?
Viral infection of the anterior horn affecting LMNs.
What are the symptoms of polio?
Flu like symptoms in initial infection.
Paralysis of muscle group 2-3 days later
Some LMN recover with weakness and some don’t
What problems does polio cause?
Joint deformities and growth defects.
How are the complications of polio treated?
Splint, risers on shoe, tendon transfer, joint fusion and lengthening/shortening.
What is spina bifida?
Herniation of part of the spinal column due to the two parts of the posterior vertebral arch failing to fuse.
What are the two subdivisions of spina bifida?
Spina bifida occulta- Mild form.
Spina bifida cystica- Severe form
Describe the problems associated with spina bifida occulta.
No problems but can get arched foot, clawed toes and dimple over the area.
Describe the two forms of spina bifida cystica.
Meningocele- Meninges alone herniate
Myelomeningocele- SC or CE herniate too
What are the problems associated with meningocele spina bifida cystica?
No problems
What are the problems associated with myelomeningocele spina bifida cystica?
Motor and sensory deficits
How do you treat spina bifida?
Close hole, correct scoliosis, release contractures and reduce/contain hip
What causes Cerebral Palsy?
Genetic problems, brain malformation, infection, prematurity, hypoxia or meningitis.