Congenital Disorders Flashcards
type of collagen affected by osteogenesis imperfecta
type 1
inheritance pattern in osteogenesis imperfecta
autosomal dominant
osteopenia or sclerosis in osteogenesis imperfecta
osteopenia
presentation of osteogenesis imperfecta
multiple fragility fractures, short stature, blue sclera, hearing loss, scoliosis
investigation for osteogenesis imperfecta
dual energy RX absorption
fracture healing in osteogenesis imperfecta
fractures heal with poor quality abundant callus
term for dwarfism
skeletal dysplasia
most common type of dwarfism
achondroplasia
achondroplasia inheritance pattern
autosomal dominant
presentation of achondroplasia
disproportionate limb: spine, prominent forehead, wide nose, lax joint, normal mental development
protein mutated in marfan syndrome
fibrillin
genetics of marfan syndrome
AD/sporadic fibrillin mutation
when is surgery required for marfan syndrome
scoliosis, joint instability
presentation of marfan syndrome
tall, disproportionate long limb, high arched palate, scoliosis, pectus excavatum, lens dislocation/retinal detachment, aortic aneurysm, mitral valve incompetence, pneumothorax, arachnodactyly
name of common hypermobility
Generalised familial joint laxity
Generalised familial joint laxity complications
more prone to soft tissue injury & recurrent dislocation esp. shoulder/patella
Ehler’s danlos syndrome inheritance pattern
autosomal dominant
Ehler’s danlos syndrome pathology
abnormal elastin/collagen formation, hypermobility, vascular fragility, scoliosis, joint instability
presentation of down syndrome relevant to msk
short stature, joint laxity, recurrent patella dislocation, atlanto/axial instability
gene mutated in duchenne muscular dystrophy
dystrophin gene (Ca transport)
Gower’s sign
difficulty standing from lying down in duchenne muscular dystrophy
blood test for duchenne muscular dystrophy
> serum creatinine phosphokinase
when is surgery relevant for > serum creatinine phosphokinase
scioliosis
less common kind of muscular dystrophy
becker’s
what is syndactyly
2 digits fused
what is polydactyly
extra digit
what herniates in most severe form of spina bifida
cerebrospinal fluid, meninges & spinal cord/cauda equina
causes of cerebral palsy
intrauterine infection, premature, haemorrhage, hypoxia, meningitis, labour problem
some management options for cerebral palsy
botox, IM baclofen, PT, surgical release of joint contracture, tendon transfer
name the two conditions of brachial plexus palsy
erb’s dystonia, klumpke’s palsy
level of spinal cord affected by klumpe’s palsy
C8 & T1
level of spinal cord affected by erb’s dystonia
C5 & C6
which muscles lose innervation in erb’s dystonia
deltoid, supraspinatus, biceps & brachialis
management of erb’s dystonia
with pt function normally restored
cause of klumpke’s palsy
forceful adduction
klumpke’s palsy pathology
intrinsic hand muscle paralysis +- finger/wrist flexor
