Clinical Paediatric orthopaedics Flashcards
What is osteogenesis imperfecta?
brittle bones disease - defect of maturation and organisation of type 1 collagen
What the main causes of osteogenesis imperfecta?
Autosomal dominant with multiple fragility fractures of childhood, short stature with multiple deformities, blue sclerae and loss of hearing
- can have rarer autosomal recessive and are either fatal in the perinatal period or associated with spinal deformity
what is Skeletal dysplasia?
medical term for short stature/dwarfism - due to genetic error (hereditary or sporadic mutation)
What is the most common type of skeletal dyspasia?
achondroplasia - autosomal dominant however most cases are sporadic
What is Marfan’s syndrome?
Autosomal dominant or sporadic mutation of the fibrillin gene resulting in tall stature with disproportionately long limbs and ligamentous laxity
What are the associated features of Marfan’s syndrome?
High arched palate
scoliosis
Flattening of the chest
eye problems - lens dislocation and retinal detachment
aortic aneurysm
cardiac valve incompetence
spontaneous pneumothorax
apical blebs
What is Duchenne muscular dystrophy?
Defect in the dystrophin gene involved in calcium transport causes muscle weakness.
X linked recessive - only boys get it
When is Duchenne muscular dystrophy first observed in boys?
when they start to walk - find it difficult standing
Difficult to climb stairs
How do you diagnose Duchenne muscular dystrophy?
Raised CK
muscle biopsy
What is the commonest type of Obstetric brachial plexus palsy?
Erb’s palsy - injury to the upper nerve roots. causes loss of motor innervation of the deltoid, supraspinatus, infraspinatus, biceps and brachialis muscles.
internal rotation of the humerus and waiter’s tip posture
How do you manage Erb’s palsy?
physiotherapy
What is Klumpke’s palsy?
rarer type of obstetric brachial plexus
lower brachial plexus injury via forceful adduction results in paralysis of the intrinsic hand muscles and finger and wrist flexors and possible Horner’s syndrome
fingers normally flexed
worse prognosis than Erb’s
What does ‘in-toeing’ mean?
refers to a child who has their feet point towards the midline when walking or standing
What is femoral neck anteversion
describes the femoral neck pointing slightly forwards (anterverted). Excess femoral neck anterversion may give the appearance of in-toeing but is not at a greater magnitude
What is flat feet?
when children do not develop arched foot. does not necessarily carry any functional problems?
How do you differentiate between mobile and fixed flat feet?
Mobile/flexible- flattened medial arch forms with dorsiflexion of the great toe (jack test). Only present on weight bearing. It is a normal variant in children.
rigid- arch remains flat regardless of load or great toe dorsiflexion. implies underlying bony abnormality
What is developmental dysplasia of the hip? (DDH)
Dislocation or subluxation of the femoral head during the perinatal period which affects the subsequent development of the hip joint
What is the prevalence DDH?
More common in girls than boys
affects up to 5 in 1000 babies
What are the clinical features of DDH?
more common in the left hip - due to the intrauterine position
Age <4
1/5 of cases of DDH are bilateral
Severe arthritis due to reduced contact area can occur at a young age
signs:
- Shortening, asymmetric groin/thick skin creases
- Click or clunk occurs with ortolani or Barlow manoeuvres
- Unstable hips with a positive ortolani test
What are the risk factors of DDH?
Positive family history of DDH
Breech presentation
first born babies
Down’s syndrome
Talipes
Arthrogryposis
How do you diagnose DDH?
positive Ortolani test ( reducing a dislocated hip with abduction and anterior displacement)
Positive Barlow test (dislocatable hip with flexion and posterior displacement)
US - detects a dislocated hip, unstable hip or a shallow acetabulum
X rays - cannot be used for early diagnsis as the femoral head epiphysis is unossified until 4-6 months but X-rays are investigation after this age
How do you manage DDH?
Pavlik harness- for dislocated or persistently unstable hips. keeps the hips in comfortable flexion and abduction - maintains reduction. Used up to 4-6 months of age
Open reduction for children >18 months
What is the transient synovitis of the hip?
a self-limiting inflammation of the synovium of a joint - most commonly the hip
most common cause of hip pain in childhood
What is the prevalence of transient synovitis of the hip?
Typical age 2-10
more common in boys
Commonly occurs shortly after an URTI
What are the clinical features of transient synovitis?
Child presents with limp or reluctance to weight bear on the affected side
Motion may be restricted - not as bad as septic arthritis
Fever
How do you diagnose transient synovitis?
Radiographs exclude Perthes disease
Normal CRP - excludes Septic arthritis
MRI - excludes osteomyelitis
aspiration of the hip - see if there is potential bacterial infection
How do you manage transient synovitis?
NSAIDs and rest
pain generally resolves within a few weeks
What is Perthes disease?
Idiopathic osteochondritis of the femoral head