paeds Flashcards
inheritance osteogenesis imperfecta
autosomal dominant (type 1) // recessive type 2 = death
mutation osteogenesis imperfecta
type 1 collagen
symptoms osteogenesis imperfecta
childhood, fractures, blue sclera, short stature, deafness
invx osteogenesis imperfecta
ca, phosphate, PTH, ALP
what is langerhans cell histiocytosis
abnormal proliferation of histocytes
symptoms langerhans cell histiocytosis
bone pain in skull or femur, nodules, otitid media or mastoiditis
xray langerhans cell histiocytosis
punched out legions
what is normal varus/ valgus alingment at birth
varus
what is normal varus/ valgus alignment as a toddler
valgus
what structural variant causes intoeing
femoral anteversion
what test can used to determine if flat feet are pathological or not
jack’s test –> dorsiflexion of big toe forms an arch
what is curly toes
overlapping and curling of toes
what is developmental dysplasia of the hip (DDH)
dislocation or subluxation of femur head from acetabulum
RF DDH
girls, first born, breech, down syndrome, oligohydramnios, left leg
complications DDH
fake acetabulum forms –> severe OA at young age –> THR
symptoms DDH
short limb, asymmetric groin fold
when is DDH screened for
USS for firs degree relative with hip problems, breech at 36 weeks
invx DDH
barlow –> ortolani test // USS // XRAY 4-6 months