Paediatric and congenital orthopaedics Flashcards
(85 cards)
what is osteogenesis imperfecta and autosomal dominant/recessive is more common
defect in maturation and organisation of type I collagen
autosomal dominant
how would bones appear in osteogenesis imperfecta
thin cortices
osteopenia
features of achondroplasia, proportionate/disproportionate, inheritance
disproportionate short limbs, prominent forehead and wide nose, joint laxity
autosomal dominant but usually sporadic
complicating features of skeletal dysplasias
learning difficulty spine deformity atlantoaxial subluxation cord compression joint hypermobility tumour organ dysfunction
patients with general joint laxity are more prone to?
dislocations and sprains - especially joint and patella
what is marfans syndrome
autosomal dominant/sporadic mutation of fibrillin gene leading to tall stature with disproportionately long arms and joint laxity
features of marfans syndrome
scoliosis, long arms, tall stature, joint laxity, high arch palate, aortic/mitral regurgitation, pectus excavatum, aortic aneurism/dissection
what is ehlers-danlos syndrome and common features?
heterogenous condition with autosomal dominance affecting collagen and elastin
easy bruising, vascular fragility, joint hypermobility and instability, scoliosis
what is duchenne muscular dysytrophy
x linked recessive dystrophin mutation in calcium transport causing progressive muscle weakness
what is CP
neuromuscular disorder with onset <2-3 due to immature brain before, during or after birth
causes of CP
genes brain malformation issues during labour meningitis intrauterine infection intra-cranial haemorrhage hypoxia during birth
most common type of CP
spastic
what does ataxic CP affect
cerebellum
features of athetoid CP
writhing, changes in tone and difficulty with speech
MSK manifestations of CP
hip dislocation, joint contacture, scoliosis
what is spina bifida
congenital defect where two halves of the vertebral arch fail to fuse
mildest is spina bifida occulta and most severe is spina bifida cystica
who is obstetric brachial plexus palsy more common in
larger babies, twins, shoulder dystocia
what nerve roots does erb’s palsy affect
C5-C6 upper nerve roots
what nerve roots are affected in klumpke’s palsy
C8-T1
at what age should a child be able to sit alone/crawl
6-9 months
at what age should a child be able to stand
8-12 months
at what age should a child be able to walk
14-17 months
at what age should a child be able to jump
24 months
at what age should a child be able to manage stairs independently
3 years