MSK Flashcards
achondroplasia is and path
congenital disorder resulting in rhizomelic dwarfism
FGFR3 mutation on chromosome 4p16.3 which causes abnormal cartilage formation
gain of function mutation with activation of inhib signal. all bones formed by endochondral ossification affected. membranous (like skull) normal.
Achondroplasia imaging
Antenatal
- short femur
- trident hand
- frontal bossing
- depressed nasal bridge
Cranial
- large vault, small base
- frontal bossing
- depressed nasal
- narrow FM
- comm hydrocephalus
Spinal
- posterior vert scalloping
- pregressive decreased interpedicular distance
- gibbus; kyphosis with bullet vert
- short pedicle canal stenosis
- widening IVD
Chest
- anteiror flaring
- AP narrowing of ribs
Pelvis
- horizontal acetabular roof
- tombstone iliac wings
- trident acetabulum
- champagne pelvic inlet
Limbs
- metaphyseal flaring
- rhizomelic shortening
Nail patella syndrome is
a rare AD condition results from symmetrical mesodermal and ectodermal abnormalities.
underlying genetic defect caused by loss of function mutation on LMX1B chromosome 9
XR
- hypoplastic/absent patella
- hypoplasia radial head/capitellum
- bilateral posterior iliac horns
- flared iliac crests with protuberant anterior iliac spines
Cleidocranial dysostosis is and imaging
rare polyostotic skeletal dysplasia caused by a CBFA1 gene mutation in AD inherited or sporadic mutation pattern
incomplete ossification of midline structures, including the clavicle and pubic bones
Skull
- wormians
- widened sutures/fontanelles
- basilar invag
- supernumery teeth
- abnormal ear structures
Chest
- absent/hypoplastic clavicles
- supernumery ribs
- hemivert with spondylosis
Pelvis
- iliac hypoplasia
- absent/delayed ossification pubic bone
Limbs
- short/absent fibular/raidus
- coxa vara
Melorheostosis is and pathology
aka leri disease. uncommon mesenchymal dysplasia manifesting as regions of sclerosing bone with dripping wax appearance
can be mono or polyostotic. tends to be monomelic. predilection for long bones. tendency for sclerotome distribution
Melorheostosis imaging
Classic
- periosteal cortical thickening
- endosteal thickening
- thick undulating ridges of bone (candle wax)
- confined to sclerotome
Osteoma like
Myositis ossificans like
Osteopathia striata like
Mixed
Mixed sclerosing bone dysplasia has features of
Melorheostosis
Osteopathia striata
Osteopoikilosis
Duchenne muscular dystrophy is
the most common muscular dystrophy
characterised by progressive muscle weakness and fatty replacement
x linked recessive pattern. DMD gene, encodes for dystrophin, becomes non fucntioning (more severe than Beckers)
Duchenne muscular dystophy imaging
fatty muscle replacement
scoliosis
hypoinflated lungs
cardiomegaly
gracile bones
MR
early invovlemnt of gastroc
eventual glutes, add magnus, then psoas, iliacus, quads, rectus, biceps, peroneus, soleus
sparing of; sartorius, gracilis, semitend, semimemb, tib posterior
Upper limb;
trics, bics, teres major, RC
spares; deltoid
Olliers disease is
a non hered skeletal disorder characterised by multiple enchondromas
should stop growingwhen the patient does, otherwise concern for malignant trasnformation
typically short tubular bones of hands and feet
Maffuci syndrome is
a congenital non hered mesodermal dysplasia characterised by multiple enchondromas with soft tissue venous malformations and/or spindle cell haemangiomas
somatic mutations in IDH1 or IDH2
Metachondromatosis is
the rare combination of multiple enchondromoatosis and osteochondromatosis (olliers and diaphyseal ecclasia)
Osteogenesis imperfecta is and path
a hetergenous group of congenital non sex linked genetic disorders of collagen type 1 production
disturbance in the synthesis of type 1 collagen, predominant protein of the extracellular matrix in most tissues
COL1A1 and COL1A2. can be AD, AR or sporadic.
can be mild, perinatal lethal or progressive deforming
hjallmark feature is osteoporosis and fragile bones that fracture easily. also blue sclera, dental frag and hearing loss
Osteogenesis imperfecta imaging
Head/spine
- basilar invag
- wormian bones
- scoliosis
- compression fractures
- codfish vert
- platyspondyly
Chest
- pectas ex or carinatum
- accordion ribs
Pelvis
- protusion acetabuli
- coxa vara
General
- severe op
- gracile bones
- cortical thinning
- popcorn calrc at meta/epiphysis
- zebra stipe sign (cyclic bisphosphonate therarpy)
- pseudoarthroses
Gracile bones ddx
NF1
Immobilisation
Muscular dystrophy
JRA
OI
Marfans
Homocystinuria
Haemophilia
NIMROD
- NF1
- Immob
- MD
- RA
- OI
- Dysplasia (marfans, homocystinuria)
- also haemophilia i guess
Wormian bones ddx
PORKCHOPS
Pyknodyostosis
OI
Rickets
Kinky hair
Cleidocranial dysostosis
Hypothyroid/hypophosphate
Otopalatodigital syndrome
Primary acroosteolysis (Hajdu Cheney)/ progeria
Syndrome of a Downs
Osteopetrosis is and path
AKA albers schonberg disease or marble bone disease
uncommon hered disorder. results from defective osteoclasts and overgrowth of bones. bones become thick and sclerotic, but more brittle
can crowd the marrow, resulting in myelophthisic anaemia and EMH/splenomaegaly
Features depend on subtype
- infantile AR osteopetrosis
- Benign adult AD osteopetrosis
Osteopetrosis types and imaging
AUTOSOMAL DOMINANT
- less severe type
- benign/adult
imaging
- bone in a bone
- erlenmeyer flask
- sanwich vertebrae
- alternating radiolucent metaphyseal bands
AUTOSOMAL RECESSIVE
- more severe, presents earlier
Imaging
- bone in bone
- triangle mandible sign
- defective dentition
- paranasal sinuses poorly pnematosised
- hyperteolrism
- dense inner table, low attenuation diploic, dense inner table
- hair on end
Bone in bone ddx
Normal
Cortical splitting and new periostitis
- sickle cell
- thalassemia
- gaucher
- chronic OM
- scurvy
Caffey disease
Abnormal metab
- hypothyroid
- hypparathy
- pagets
- acromegaly
- osteopetrosis
Disordered growth
- heavy metal
- hyper vit d
Subcortical osteopenia
- leukaemia
- mets
- complex regional pain syndrome
Oxalosis
Iatrogenic
- grafts
- bisphosphonate
Bone healing
Mnemonic: GHOST DRAGON
Growth arrest
Heavy metal/hypoparathy/hypothy
Osteopetrosis
Sickle cell, scurvy, syphillis
Thalessemia, TB
Disease of caffey, hypervit D
Rickets, radiation
Acromegaly
Gauchers
Oxalosis
Normal
Erlenmeyer flask deformity causes
AP OF DR GHLN
- achondroplasia
- Pyle disease
- Osteopetrosis /osteochondromatosis
- Fibrous dysplasia
- Down syndrome
- RA/RIckets
- Gaucher
- Hypophosphataemia, haemoglobinopathies
- Leukamia, lead poisoning
- Niemann Pick disease
Hair on end sign causes
HI NEST
Hereditary spherocytosis
Iron def anemia
Neuroblastoma
Enzyome def
Sickle cell
Thalassemia major
Osteopoikilosis is and assoc
sclerosing bony dysplasia characterised by multiple benign enostoses
often found with osteopathia striata and melorheatosis
Arthrogryposis is and assoc
descriptor that denotes congenital non progressive joint contractures invovling two or more body regions
Syndromes
- pena shokeir
- multiple pterygium
- fowler
- freeman sheldon
Non syndrome
- CNS anomalies
- NM disorders
Achondrogenesis is
a rare and extreme group of skeletal dysplasias
affects both bone and cartilage development
Can be AR or AD depending on type. May involving mutations in SLC26A2 and COL2A1 depending on type, or may be unknown.
Achondrogenesis imaging
fetal bony structures unable to be identified
extreme micromelia
can sometimes have calvarium, leaving a floating head appearance
additional
- micrognathia
- macrocephaly
- frontal bossing
- flat face
- anteverted nares
- long philtrum
- narrow thorax
- lung hypoplasia
- polyhydramnios/hydrops
Jeune syndrome is
aka asphyxiating thoracic dysplasia
rare short limb skeletal dysplasia characterised by contricted long narrow thoracic cavity
can be complicated by pulmonary hypoplasia, renal failure from cystic renal disease and hepatic cirrhosis
Jeune syndrome imaging
Thoracic
- short narrow elongated chest shape
- high riding clavicles
- irregular costochondral junctions
Skeletal
- dysplastic acetabula
- trident acetabula
- short flared iliac bones
- ischial/pubic spurs
- acromelia
- polydactyl
- short broad phalanges
Abdominopelvic
- cystic renal disease
- cystic pancreatic disease
- hepatic dysfx
Chondrodysplasia punctata is
a heterogenous group of skeletal dysplasia. calcific stippling of catilage and periarticular soft tissues is a common features.
Ellis van crevald syndrome is
aka chonddroectodermal dysplasia. rare skeltal dysplasia. type of mesomelic limb shortening.
mutations in either EVC1 or EVC2 on chromosome 4p16. AR with variable expression
Congenital pseudoarthrosis of hte tibia is
abnormal bowing that can progress to segmental bone loss simulating the appearance of a joint
aetiology is unclear but assoc with NF1
imaging
- progressive bowing
- short segment resorption
- angulation at absent bone segement
- mimics appearance of joint
Trevor disease is
aka dysplasia epiphysealis hemimelica. rare non hered disease characterised by osteochondromas arising from the epiphyses.
Fibrodysplasia ossificans progressiva is
aka munchmyer aka myositis ossificans progressiva. rare inherited characterised by progressive fibrosis and ossification of hte muscles, tendons, fascia, aponeuroses and ligaments. disabling and fatal.
Intramedullary osteosclerosis is
a sclerosing dysplasia assoc with increased bone formation within the medullary cavity. dx of exclusion
Mastocytosis is
excessive accumulation of mast cells in one or more organs
Mastocytosis imaging
Skeletal
- lytic, sclerotic or mixed
- diffuse invovlement is common
- sclerosis of axial skeletan and proximal long bones usually
Abdominal
- PUD
- diffuse small bowel thickening
- omental and mesenteric thickening
- hepatosplenomegaly
- ascites
- lymphadenopathy
Pulmonary
- nodules
Diffuse bony sclerosis ddx
3MPROOF
Malig
Myelofibrosis
Mastocytosis
Sickle cell
Pagets/pyknodysotosis
Renal osteodystrophy
Osteopetrosis
Other; sclerotic dysplasia, hyperthy, hypoparathy
Fluorosis
Pyknodysostosis is
aka toulouse lautrec syndrome aka osteopetrosis acroosteolytica
rare autosomal recessive bone dysplasia
characterised by osteosclerosis and short stature
def in cathepsin K, 1q21
Pyknodysotosis imaging
hands
- short stubby fingers
- “distal acroosteolysis”
- delayed bone age
Cranial
- delay in suture closing
- wormian bones
- frontoparietal bossing
- nasal beaking
Other
- vert sclerosis
- increased lumb lordosis
- vert segmental anomalies
- hypoplastic clavicles
Monteggia fracture dislocation is
ulnar shaft fracture
radial head dislocation
GRIMUS:
Gal: Radial fracture, Inferior dislocation
Mon: Ulnar fracture, Superior dislocation
Galeazzi fracture dislocation is
distal radius fracture
DRUJ dislocation/disruption
GRIMUS:
Gal: Radial fracture, Inferior dislocation
Mon: Ulnar fracture, Superior dislocation
Essex Lopresti fracture dislocation
radial head fracture
dislocated DRUJ
rupture of the interosseous membrane
Osteochondral defect is and aetiology
a focal area of cartilage damage and injury of hte adjacent subchondral bone plate and subchondral cancellous bone
aetiology
- osteochondritis dissecans
- avn
- subchondral insuff fracture
- impaction fracture
- post surgical
Osteochondral defects locations and staging
femoral condyle
humeral head
talus
capitellum
staging
1. limited to cartialge, subchondral oedema
- cartilage with subchondral fracture, no detachement
- detached, non displaced (rim sign)
- displaced
Osteochondritis dissecans is
end result of aseptic separation of an osteochondral fracment. gradual fragmentation of the articular surgace and results in an osteochondral defect.
majority thought to be related to trauma/microtrauma
Stress fracture is
fracture occuring due to mismatch of bone strength and chronic mechanical stress
can be
- fatigue; abnormal stress, normal bone
- insufficicency; normal stress, abnormal bone
Stress fracture imaging
location
- pars
- lower limb incl; femoral neck, anterior tibia, medial mall, talus, naviular, MTs (necks/base), hallux sesamoid
XR
- grey cortex sign
- increasing sclerosis or cortical thickening
- periosteal reaction/elevation
- fracture line
bone scan hot
MR
- periosteal soft tissue oedema
- band like bone marrow oedema
- t1 hypointense fracture
Insufficiency fracture is and causes
normal stress abnormal bones
includes looser zones
causes
- OP ++
- hyperparathy, dm, osteomalacia
- pagets, osteopetrosis
- marfans, FD
- meds; glucocorticoids, chemo
- radiation therapy
Bisphosphanate related fracture criteria
located in femoral diaphysis
major ft
- no or minimal trauma
- mainly transverse/oblique
- lateral cortex, medial spike
- no or minimal comminution
- endosteal thickening
minor ft
- diaphyseal thickening
- bilaterally
- prodromal sx
- delayed healing
exclusion cr
- not spiral/comminuted
- nor neck or intertrochanteric
- no underlying bone process
- not periprosthetic
Looser zones are
wide transverse lucencies with sclerotic borders traversing partwqay through a bone, usually perpindicular to cortex.
assoc with rickets and osteomalacia
type of insuff fracture. highly suggestive with symmetric and in classic loc; axialla scapula, rib, post ulnar. rami. medial femoral neck.
morel lavelle lesions are
closed degloving injuries assoc with severe trauma presenting as a haemolympathic colleciton or mass
diffuse bony sclerosis causes
3 m,s proof
Malig
Myelofibrosis
Mastocytosis
Sickle cell
Pagets/pyknodysotosis
Renal osteodystrophy
Osteopetrosis
Other; sclerotic dysplasia, hyperthyroid, hypoparathyroid
Fluoresis
diffuse bone marrow infiltration causes
MLML
mets, myeloma
lymphoma
myelofibrosis, mastocytosis
leukaemia
Primary myelofibrosis is
myeloprolif neoplasm. replcaement of bone amrrow with collagenous connective tissue and progressive fibrosis
characterised by
- EMH
- splenomegaly
- anaemia
- variable change in no of granulocytes and platelets
chronic clonal stem cell disorder. considered a chronic BCR ABL1 negative myeloproliferative disorder
Primary myelofibrosis imaging
osteosclerosis; axial, ribs, proximal humerus and gemur
superscan
hepatosplenomegaly
splenic infacrts
portal hypertension
complications
- gout
- splenic stuff like rupture or infarct
- bleeding
- thromboembolism
Hip AVN classification
Ficat and Arlet classification
Stage 0
- xray normal
- mri normla
- clinical normal
Stage 1
- xray osteopaenia
- MRI oedema
- bone scan uptake
- clinical pain
Stage 2
- xray mixed osteopaenia/sclerosis/cysts. no subchondral lucency
- mri geographic defect
- bone scan uptake
- clinical pain and stiffness
Stage 3
- xray crescent sign and cortical collapse
- MRI same
- clinical pain and stiffness, rad to knee
Stage 4
- xray end stage with degenerative change
- mri same
- clincial limp
AVN/osteoneocrosis signs
Double line
- two serpentine lines
- inner bright, outer dark
- granulation and sclerosis
Rim sign
- high T2 line between two low signal lines
- fluid between sclerotic borders of an osteochrondral fragment
Crescent sign
- subchondral fracture in setting of osteonecrosis
- curvilinear lucent subchondral line
- if articular surface flattening, suggests impending articualr collapse
AVN/osteonecrosis causes
PLASTIC RAGS
Pancreatitis, pregnancy
Lupus
Alcohol
Steroids
Trauma
Idiopathic/infection
Caisson disease, collagen vascular disease
Radiation, RA
Amyloid
Gaucher
Sickle cell
Ahlback disease
medial femoral condylkar avn
Brailsford disease
radial head avn
Buchman disease
iliac crest avn
Burns disease
distal ulnar avn
Caffey disease
entire carpus or intercondular spines of tibia avn
Dias disease
trochlear of talus avn
Friebergs infraction
MT head avn
Friedrich disease
medial clavicle avn
Haas disease
humeral head avn
Iselin disease
base of 5th MT avn
Kienbock disease
lunate avn
Kohler disease
patella/navicular (children) avn
kummell disease
vertebral body avn
legg calve perthes disease
femoral head avn
Mauclaire disease
metacarpal head avn
Muelle weiss disease
navicular (adult) avn
Panner disease
capitellum humerus avn
Peiser disease
scaphoid acn
sever disease
calcaneal epiphysis avn
thiemann disease
base of phalanges avn
Bone infarct imaging and ddx
XR
- sheet like central lucency with shell like sclerosis and serpiginous border
MR
T1
- serpiginous low signal
- peripheral rim enhancement
- central signal marrow
T2
- acute; ill defined high signal
- double line sign
- central signal that of marrow
Gradient
- double line
DDX
- Enchondroma; chondroid matrix, central marrow signal absent
healing NOF
normal red marrow
marrow tumour