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66 Cards in this Set
- Front
- Back
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alteration in chrom # or visible abnormalities in one or mor chrom
% result in spont abortoin % account for malformation in late weeks of gestations most common |
chromosomal abnormalities
20% 10% Down's |
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malformation causing C1-C2 junctoin instability
scoliosis dislocated hip dislocated patella severe flat feet |
Down's
trisomy 21 = most comon (13,15 also assoc) mental retardation short stature eyes - epicanth folds single fexoin crease in fifth finger transverse simian crease in distal palm |
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decreased density of bones
increased fragility gracile bones mutliple fractures secondary deformaties type I collagen defects short stature blue sclera middle ear deafness ligamentous laxity scoliosis |
osteogenesis imperfecta
genetic heterogeneits (may be AD or AR = more severe if AR) usually leads to early death multiple fractures usually heal well but with less bone mass than normal individual - -think angulation |
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osteochondromas in many sites (projections of bone with cartilaginous caps)
sarcomatous degeneratoin pain from this mass due to fracture, pressure on soft tissues, nerves or joints |
mutliple hereditary exostoses
AD chrom 8 - EXT1 gene |
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fibrillin defect
chrom 15 laxity of limbs = long and thin aortic regurg, aortic aneurysm rential detachment |
marfan's
AD variable expressivity |
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hypoplasia of dens leads to instability of cervical column
joint laxity knock knees (valgus) abnormal dentition corneal opacity scoliosis/kyphosis |
keratin sulfate accumualtes in th etissue
MPS morquio syndrome AR |
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crippling arthritic change may result in collapse
primary defect not in MSK painful bone infarcts |
AR
sickle cell |
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primary manifestation in another system but affect the MSK assoc with what types of d/o
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sex linked
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short stature
bowing of lower limbs rachitic change in long bones widened epiph plates |
hypophoph vit D resistant rickets
sex linked dominant -- has variable expresivitiy low serum phosphate - defect in renal tubular reabsorption normal caclium alp phos high |
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most serious form of hemophilia
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sex linked recessive
psudotumors intraarticular and intramuscular hem from chronic inflamm crippling arthropathy |
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marble bone disease
increased brittle bone due to ________ |
osteopetrosis
failure of osteoclast mediated resortption of the skeleton calcified cartilage persists without remodeling and looks denser on xray albers schonberg dz |
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separation of epiph resulting in psudoparylsis of limb
irreg long bones sclerotic epiph line |
congenital syph
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deaf
cataracts microceph mental retardation cardiac anomalies low PLT retarded growth metaph bony abnormal |
congenital rubllla
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partial to complete limb absence
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thalidomide
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failure of digit segmentation
if bones are involved? |
syndactyly
complex syndactyly |
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more digits than normal
post axial indicates preaxial indicates |
post = AD - pinky
pre = thumb = spont polydactyly |
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congential felxion contracture of the PIP joint of the finger
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camptodactyly
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preaxial border of the limb is hypoplastic or absent
forearm short, radius absent, hands fall into radial deviation radial digits hypoplastic thumb absent ulnar digits normal |
radial hemimelia
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proximal femur hypoplastic or absent (up to prox 2/3 of femur gone)
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PFFD
proximal femoral focal deficiency |
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longit def of postaxial border of the leg
fibula deficient foot may be normal |
fibular hemimelia
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restricted motion of cervical spione due to fusions of C2/C3 = congenital
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klippel feil syndrome
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congential rotational contracture of cervical spine
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toricollis
associated with developmental dysplasia of the hip - instability/laxity of hip joint resulting in subluxation or displacement -- may be due to breach deliver or restainst of hip in extension or adduction |
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multisystem congeinital syndrome
vertebral anal tracheo-esophageal renal and radial abnormalities all occur together |
VATER syndrome
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congenital failure of the scapulae and shoulder girdle to descend from the cervical spine
elevated shoulder short webbed neck at birth |
sprengel deformity
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tibial psuedoarthrosis is assoc with ?
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NF
AD inheritence mutlisystem dz |
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AVN manifest as punched out holes on xray assocaited with?
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sickle cell dz
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multiple benign bone tumors that come off the metaphysis
tumors grow as child grows - starts in childhood distal femur proximal tibia proxomial femur promial humerus distoort bone growth |
multiple osteochondromatosis
AD possible sarcomatous degeneration |
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polydactyly from a single gene malformation related to which side
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ulnar side of hand
other single gnee = MD, sickle cell |
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polygenetic malformatoin?
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club foot
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stabilizes the scapula
muscles? innervation? scapular actoion? |
traqezius = elevation and lateral roation of the scapula = spinal accessory nerve
serratus anterior = scapular protration -- long thoracic n -- think boxing and fencing |
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most freq dislocated joint?
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GH joint
ligaments here are lax has greatest ROM usually due to sudden external rotation resulting in anterior dislocation |
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pt presents with squaring of shoulder contour
limited adduction apparent lengthening of the humerus can't place ipsilateral hand on contralateral shoulder |
anterior dislocatinof the GH joint
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pt fell down open mine shaft - injiury most likely to result?
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GH joint
bilateral inferoir disloction violent abduction |
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stage these injuries of the AC Joint
complete tear of AC and CC complete tear of AC + partial CC tear partial AC tear |
Stage III = AC dislocation = complete separation == tree fall
Stage II = AC subluxatoin STAGE I - no displacmeent = land on shoulder |
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tx for cacific tendinitis with secondary bursitis
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non- resolves by itselve - very vascular area
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humeral fracture - proximal to deltoid tubuerosity
proximal fragment vs distal fragment direction? |
prox = medially due to pec major
distal = lateral = deltoid if distal to tuberosity, these are reversed |
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antecubital fossa contains which vessels
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median nerve
brachial artery |
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FOOSH results in ____ fracture and __________ dispalcement of the proximal fragment which may injure the ___________ which produces __________
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supracondylar fracture of the humerus
anterior displacement of the proximal fragment may lacerate or compress the brachial artery producing muslce necrosis of the forearm flexors (volkmann contracture) |
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pt present with atrophy of anterior foreamr
pain pallor sweating paresthesia |
supracondylar fracture
can't feel a distal pulse |
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flexion contractures of elbow wrist and fingers
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volkman ischmeic contracture
late suprachondylar fracture lacerating antecubital fossa contents (median nerve brachial artery) think FOOSH |
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diff between supracondyular fracture and posterolateral dislocation of elbow/ulna
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latter = evident by movemetn of the triangle posteriorly
both from foosh think elderly with later |
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pt suffers radial fracture
proximal fragment is supinated and distal is pronated where did the fracture occur? if the pronation and supination were balanced? |
proximal to the pronator teres
lots of rotatoin seen here on displacmeent fracture distal to pronator teres |
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carpal bone that spans both carpal rows
____ marks the entry on the lateral side of the hand of the median nerve and artery |
scaphoid
pisiform |
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hand bone most prone to fracture
hand bone most prone to dislocatoin AVN is most likely with which |
scaphoid - fracture - proximal half will necrosis will result in 1/3 of indivs w/o vasculature throughout this bone
both can lead to AVN due to distal entry of blood supply lunate (think FOOSH) - median nerve injury - more prone to AVN if both anterior and posterior ligaments from radius are cut or early reduction is not persued followed cut of one ligament |
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pt presents with shortened radius
dorsal tilt of hand |
colles fracture of the radius
silver fork deformity limited painful rotation |
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PIP hyperextension + MCP and DIP flexion
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swan neck deformity
RA laceration of the FDP; contracture/spasm of the intrinsics -- increased pull on the dorsal hood |
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dorsal angulatoin of metacarpal - muscle that produces this angulation ?
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interosseus
boxing fracture |
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flexed IP joints
MCP joints hyperextended thenar atrophy |
low lesoin of median and ulnar nerves
IP joint extension = intrinsics (lumbricals = MCP --med and ulnar + interossei IP = ulnar) acting = extensors powered by radial nerve claw hand |
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PIP flexed
McP hyperextended at 4 and 5 |
PIP flexion via FDP = median nerve in tact - no opposition (interossei ulnar)
loss of flexoin of the MCP at 4 and5 means loss of lumbricals of 4 and 5 so ulnar nerve gone low lesion ulnar nerve hand of benediction |
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volar angulation of phalanx (towardd ventral side/plamar side)
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proximal phalanx fracture due to action of interossei and lumbicals
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central slip laceration
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boutanniere deformity
lateral bands move volar at PIP dorsal at DIP think RA pt boutonneire deformity |
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hydroxylproline in urine is an indicatoin of ?
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collagen degradation
bone resorption |
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crosslinkage of collagen is highest in what structure
process of crosslinkage utilizes ________ |
anulus fibrosus
increased amount of crosslinks = stronger lysine and hydroxylysine |
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fibronectin and osteopontin indicate?
osteocalcin, matrix gla protein MGP TGF-B, IGF1? hallmark of osteoblast activity? |
cell attachment/calcium binding
bone turnover -- osteoblasts are forming bone here grwoth factors synth by osteoplblasts - dev and reg of bone alkaline phosphatase |
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PGs/GAGs that
influence early bone formation and integrity of bone matrix prior to mineralizatoin facilitates interaction of osteoblasts with othe rmatrix molecules |
chondroitin sulfate
heparin sulfate |
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75% of dry weight of bone is ?
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inorganic constituents (minerals)
most important = hydroxyapatite (hardness, strength, store of calcium) |
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water content of bone ______ with age
calcium homeostasis is regulated by _______ |
decrease
osteocytes |
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dz resulting from inc lag time from time osteoid is produced to mineralization of osteoid into bone
________- secrete procollagen to form osteoid |
rickets
no hydroxyapatite in osteoid here osteoblasts |
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hyperextensible joints
hyperelastic skin poor wound healing easy brusiing |
disorder of collagen synth = Ehlers danos syndrome
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process whree
procallagen is cleaved, collagen depostion, crossslinks occdur, lag time of 5-10d |
osteoid maturation
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what is nucleation
what promotes this? inhibits? |
part of mineralization process
controlled by osteoblsats where core "seed" of hypdroxyapatite deposited promoted by collagen I, biglycans, etc prevented by large PGs, PPi, ATP, citrate |
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bone formatoin - vertical kids
bone formatoin - sideways - kids |
physes
periosteum |
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primary Ca exchanger for homeostasis in bone, sense stress bone is under, maintain bone, synth collagen, control mineralization and resorptoin within their space
dz associated with excessive bone resorption of these cells |
osteocytes
hyper PTH Pagets disuse osteoperosis |
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osteoclasts secrete _______
signal for initation given by? |
collagenolytic enzymes (MMPs) and protons (lower pH for dissolutoin of matrix)
PTH to osteoblasts which secrete OAF to turn on osteoclast activity/diff |
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bone turnover markers
alkaline phsophatase fragment osteocalcin urine hydroxyproline collagen pyridinolin dexoypyrinoline |
osteablast activity
" " bone resorptoin = rest pyr = for callagen degradation deoxypyr = for bone degradation = most specific!!! |
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long term adjustment to calcium serum levels
short term? |
1,25 dihydroxyvitamin D (intestinal absorption) - regulated by PTH
PTH = inc resorption and inc serum caclium |
