Paediatric Orthopaedics Flashcards
What is Osteogenisis Imperfecta?
brittle bone disease
there is a defect in the maturation and organization of type 1 collagen
multiple fragility childhood fracture, short stature, blue sclerae and loss of hearing
what congenital disorder is this?
Osteogenisis Imperfecta
What is Skeletal dysplasias?
DWARF!
short stature due to genetic error resulting in abnormal development of bone.
what is the most common type of skeletal dysplasia?
achondroplasia
what is achondroplasia like?
disproportionately short limbs with prominent forehead and widened nose.
joints are lax and mental development is normal
what do connective tissue disorders usually result in?
hypermobility
what is marfan’s syndrome?
an autosomal dominant or sporadic mutation of the fibrillin gene resulting in TALL STATURE WITH DISPROPORTIONATELY LONG LIMBS AND LIGAMENTOUS LAXITY
name some features associated with marfan’s syndrome?
glaucoma lens dislocation high arch palate in mouth spontaneous pneumothorax flattening of chest-pectus excavatum) heart problems-mitral regurge, aortic aneurysm and regurg long arms scoliosis long legs
what is Ehlers-Danlos syndrome?
abnormal elastin and collagen formation
Name some clinical features of Ehlers-Danlos syndrome?
profound joint hypermobility
vascular fragility with ease of bruising
joint instability
scoliosis
what are the MSK manifestations with Downs syndrome?
short stature and joint laxity and possible recurrent dislocation
What causes Duchenne Muscular Dystrophy?
a defect in the dystrophin gene which is involved in calcium transport
results in muscle weakness
how do you diagnose Duchenne Muscular Dystrophy?
raised serum creatinine phosphokinase and abnormalities on muscle biospy.
What is beckers Muscular Dystrophy?
similar to DMD but milder and they can live to 30’s/40’s instead of 20’s.
What is cerebral Palsy?
a neuromuscular disorder due to an insult to the immature brain before, during or after birth.
what is the most common expression (type) of cerebral Palsy?
spastic CP
what spina bifida?
2 halves of the posterior vertebral arch fail to fuse (probs in the first 6 weeks of gestation)
what is the mildest form of spina bifida?
spina bifida occulta
what is the most severe form of spina bifida?
spina bifida cystica
what is Polio?
a viral infection which affects motor anterior horn cells in the spinal cord or brain stem resulting in lower motor neurone deficit.
how does the polio virus enter the body?
via the Gi tract
When do you get obstetric brachial nerve palsy?
mainly in large babies and twins.
what is the most common type of obstetric brachial nerve palsy?
Erb’s Palsy
Waiter’s tip posture
Erb’s Palsy
what happens in Erb’s Plasy?
injury to the upper nerve roots (C5 and 6) resulting in loss of motor innervation of deltoid, supraspinatus, infraspinatus, biceps and brachialis
can lead to internal rotation of the humerus.
what is Klumpke’s Palsy?
a rarer type of obstetric brachial nerve palsy
injury to C8 and T1
can result in paralysis of intrinsic hand muscles and horner’s syndrome
when should a baby sit alone/crawl?
6-9 months
when should a baby stand?
8-12 months
when should a baby walk?
14-17 months