Paediatrics Flashcards
What is osteogensis imperfecta? What are bones like with this condition?
defect in maturation and organization of T1 collagen
Bones are thin with thin cortices and osteopenic
osteogensis imperfecta is an autosomal - condtion.
dominant
osteogensis imperfecta is characterised by which 3 signs?
Children with osteogensis imperfecta shop at BHS:
Blue sclera
Hearing loss
Short stature
Management of OI?
No cure
COnservative: splintage, traction or surgical stabilisation
Maintain health
Vitamin D supplements
PAMIDRONATE - type of biophosphate to prevent loss bone mass
What is skeletal dysplasia?
Short stature
What is achondroplasia?
disproportionately short limbs
prominent forehead
widened nose
What are the features associated with Marfan’s syndrome?
High arched palate Scoliosis Pectus excavatum eye Problems aortic aneurysm cardiac valve incompetance
What is marfan’s syndrome?
mutation fibrillin gene
tall with disproportionately long limbs and ligamentous laxity
What is Ehlers-Danlos syndrome?
Abnormal elastin and collagen
Hypermobility, vascular fragility, easy bruised, joint instability, scoliosis
MSK manifestation down syndrome?
short
ligamentous laxity
recurrent dislocation
Muscular dystrophies are rare and only affect boys
T
usually x linked recessive
What is Duchenne muscular dystrophy?
Defect in dystrophin gene involving calcium transport
muscle weakness
How is Duchenne muscular dystophy diagnosis confirmed?
raised serum phosphokinase
abnormalities muscle biopsy
Duchenne muscular dystophy is obvious at birth
F
muscle weakness may only be noticied when child walks with difficulty
Duchenne muscular dystophy can cause cardiac and resp failure
T
death typical early 20s
What is the cause of cerebral palsy?
Insult to brain before or after birth
genes, brain malformation, early pregnancy, intrauterine infection
Incidence of brachial plexus injury is around 2/100
F
2/1000
brachial plexus injury commonly arises in large babies
T
What is Klumpke’s palsy?
lower brachial plexus injry caused by forceful adduction
Consequences of klumpke’s palsy?
paralysis of intrinsic hand muscles - fingers typically flexed WAITER’S TIP POSTURE
Horner’s syndrome (drooping eyelid and bloodshot eyes)
At birth children have - knees
varus
bow legs
At 14 months the legs become..
straight
Children develop - knees at age 3 which gradually become less extreme at age 7/9
valgus (knock knees)
Lower limb variations are abnormal in children if:
greater than 2 yrs old
pain
unilateral
What is femoral neck anteversion? What does it cause?
femoral neck slightly pointing forwards
in toeing
femoral neck anteversion is a surgical emergency
F
part of normal anatomy
At birth all feet are flat
T
What is mobile flat footedness?
Only present on weight bearing
flattened medial arch forms with dorsiflexion of great toe