Anda di halaman 1dari 16

5/29/2017 ImaginginOsteogenesisImperfecta:Overview,Radiography,ComputedTomography

Thissiteisintendedforhealthcareprofessionals

ImaginginOsteogenesisImperfecta
Updated:Nov30,2015
Author:AnishKirpalani,MDChiefEditor:FelixSChew,MD,MBA,MEdmore...

OVERVIEW

Overview
Osteogenesisimperfecta(OI)isacommonheritabledisorderofcollagensynthesisthatresultsin
weakbonesthatareeasilyfracturedandareoftendeformed.Severaldistinctsubtypeshavebeen
identified,allofwhichleadtomicromelic(shortlimbed)dwarfismofvaryingdegree.Dependingon
severity,thebonefragilitymayleadtoperinataldeathorcauseseveredeformitiesthatpersistinto
adulthood.[1,2,3,4,5,6,7,8]

Thevariabilityofthemodesofinheritance,familyhistory,clinicalfeatures,andradiologicfindings
formsthebasisforthecurrentacceptedclassificationsystemofosteogenesisimperfecta,which
Sillenceetalfirstproposedin1979.TworadiographsdepictingtypeIdiseaseappearbelow.

FrontalradiographoftheleginapatientwithtypeIosteogenesisimperfecta(OI)showsevidenceofsevere
osteoporosis,overtubulationofboththetibiaandfibula,andahealingfractureofthetransversediaphysealof
thetibia.Alsonotethemultiplemetaphysealgrowthrecoverylinesaboutthekneeinthispatientwhowas
treatedwithpamidronate.
ViewMediaGallery

http://emedicine.medscape.com/article/411919overview 1/16
5/29/2017 ImaginginOsteogenesisImperfecta:Overview,Radiography,ComputedTomography

Frontalradiographoftheforearmina17yearoldfemaleadolescentwithtypeIosteogenesisimperfecta(OI)
showsosteoporosis,bowingdeformitieswithovertubulationoftheradius,ahealedulnarfracture,andcallus
formationoverthedistalhumerus.Growthrecoverylinesarepresentinthedistalradius.
ViewMediaGallery

Typesofosteogenesisimperfecta
Bonefragilitywithmultiplefracturesandbonydeformitiesarethecommonhallmarkofalltypes.

IntypeIosteogenesisimperfecta,bonefragilityismild,andthereareminimalbonydeformities.
Approximately20%ofpatientshavekyphoscoliosis.

TypeIIisthemostsevereformofosteogenesisimperfecta.Theribsarethinandbeaded,thelong
bonesarecrumpled,thereislimitedcranialand/orfacialboneossification,andthelimbsareshort,
curved,andangulated.TypeIIdiseasecanbefurthersubdividedintotypesIIA,IIB,andIIConthe
basisoftheradiographicfeaturesofthelongbonesandribs(seeRadiographfordetails).

TypeIIIosteogenesisimperfectaisthenextmostsevereformaftertypeIIandisprobablytheform
thatisbestknowntoradiologistsandorthopedicsurgeons.Itshallmarkfeatureisseverebone
fragilityandosteopenia,whichisprogressivelydeforming.Multiplefracturesandprogressive
deformityaffectthelongbones,skull,andspineandareoftenpresentatbirth.Kyphoscoliosisis
common.Childrenwiththistypeofosteogenesisimperfectatendtohaveseveredwarfismcaused
byspinalcompressionfractures,limbdeformities,anddisruptionofgrowthplates.

TypeIVosteogenesisimperfectaisdistinguishedfromtypeIbytheslightlyincreased,althoughstill
variable,severityofbonefragility.Mildtomoderatebonydeformityofthelongbonesandspineis
presenttheincidenceoffractureisvariable.Basilarimpressionoftheskull,withconsequent
brainstemcompression,iscommon(reportedin70%ofpatients).

AtypeVcategoryhasbeenaddedtoincludepatientswithosteoporosisorinterosseous
membraneossificationoftheforearmsandlegs,aswellaspatientswhoarepronetothe
developmentofhypertrophiccalluses.[9,10,11]

SeeSpecialconcerns,below,foracontroversial,selflimitingvariantofosteogenesisimperfecta,
knownastemporarybrittlebonedisease.

http://emedicine.medscape.com/article/411919overview 2/16
5/29/2017 ImaginginOsteogenesisImperfecta:Overview,Radiography,ComputedTomography

Preferredexamination

Thepreferredexaminationfortheinitialinvestigationofosteogenesisimperfectaisplain
radiography.Indeed,mostoftheimagingcharacteristicsofthisdiseaseareapparentonplain
radiographs.Prenatalultrasonographyplaysaroleinthediagnosisofosteogenesisimperfecta
thisconditionisoneofthemorecommonskeletaldysplasiasdetectedwithprenatal
ultrasonography.Mostcasesarefoundincidentallyonultrasonographicexaminationsperformed
forotherreasonstypicalincidentalfindingsincludefractures,decreasedcalvarialossification,or
calvariathatarecompressiblewithtransducerpressure.Mostcasesofosteogenesisimperfecta
thatarerecognizedinthiswayaretypeII,andthepatientshavenofamilyhistoryofthedisease.
Magneticresonanceimaging(MRI)playsanadjunctproblemsolvingroleinassessingfor
associatedcomplications,suchasbasilarinvagination.[12,13,14,15,16]

Differentialdiagnosisandotherproblemstobeconsidered

Becauseosteoporosisandmultiplefracturesarehallmarkfeaturesofosteogenesisimperfecta,
otherdisordersthatcausemultiplefracturesordecreasedbonemineralizationmaybeconsidered
inthedifferentialdiagnosis,suchaschildabuse,juvenileosteoporosis,steroidinduced
osteoporosis,Menkes(kinkyhair)syndrome,hypophosphatasia,batteredchildsyndrome
(syndromeX)andtemporarybrittlebonedisease.

Themultiplicityoffracturesseeninosteogenesisimperfectacommonlyraisesaconcernabout
childabusehowever,keyimaginghallmarkshelpdistinguishosteogenesisimperfectafromchild
abuse(ie,nonaccidentalinjury)(seeRadiograph).Becausetheradiologistplaysacentralrolein
distinguishingbetweenthese2entities,heorshemusthaveanunderstandingofthisdisease,its
geneticvariability,anditsimagingappearance.[9,17,18]

Specialconcerns

Someauthorshavesuggestedthatthereexistsaselflimitingvariantofosteogenesisimperfecta),
knownastemporarybrittlebonedisease,whichhasbeendescribedasafundamentaltransient
defectincollagenformationthatisassociatedwithmultiplefracturesininfantsyoungerthan6
months.Theradiologicandclinicalfeaturesofthisvariantarethesameasthosenotedincasesof
childabuse.Becausethereislittlescientificevidencetosupporttheexistenceofthisselflimiting
entity,controversyabouthowtodealwithcasesofpossiblechildabuseexistsinthemedicaland
legalcommunities.[19,20]

Radiography
Incasesofsuspectedosteogenesisimperfecta,postnatalradiographsshouldincludeviewsofthe
longbones,skull,chest,pelvis,andthoracolumbarspine.Theradiographicfeaturesarerelatedto
thetypeofosteogenesisimperfectaandtheseverityofdisease.Somefindings,however,maybe
seeninallsubtypes.

Generalradiographicfeaturesofosteogenesisimperfecta

Theradiologicsinequanonofosteogenesisimperfectaisgeneralizedosteoporosisofboththe
axialandappendicularskeleton.Milderformsofthisconditionresultinthin,overtubulated(gracile)
boneswiththincorticesandrelativelyfewfractures(seetheimagesbelow).Theshorttubular
bonesarealsoaffected,thoughtheyarelessfrequentlyfractured.Inaddition,radiographsofthe
skullinmilderformsofosteogenesisimperfectamayrevealnormalskulldevelopment.[14]

http://emedicine.medscape.com/article/411919overview 3/16
5/29/2017 ImaginginOsteogenesisImperfecta:Overview,Radiography,ComputedTomography

FrontalradiographoftheleginapatientwithtypeIosteogenesisimperfecta(OI)showsevidenceofsevere
osteoporosis,overtubulationofboththetibiaandfibula,andahealingfractureofthetransversediaphysealof
thetibia.Alsonotethemultiplemetaphysealgrowthrecoverylinesaboutthekneeinthispatientwhowas
treatedwithpamidronate.
ViewMediaGallery

Frontalradiographoftheforearmina17yearoldfemaleadolescentwithtypeIosteogenesisimperfecta(OI)
showsosteoporosis,bowingdeformitieswithovertubulationoftheradius,ahealedulnarfracture,andcallus
formationoverthedistalhumerus.Growthrecoverylinesarepresentinthedistalradius.
ViewMediaGallery

Moresevereformsofosteogenesisimperfecta,suchastypesIIandIII,featurethickened,
shortenedlongboneswithmultiplefracturestheseformsareoftencomplicatedbyhyperplastic
callusformation(seethefollowingimage).Thecallusismostoftenfoundaroundthefemurandis
oftenlarge,appearingasadense,irregularmassarisingfromthecortexofbone.Thiscallusis
associatedwiththickenedperiosteum,anditspresencecausesotherdifferentialdiagnostic
http://emedicine.medscape.com/article/411919overview 4/16
5/29/2017 ImaginginOsteogenesisImperfecta:Overview,Radiography,ComputedTomography

considerations,includingosteosarcoma,myositisossificans,chronicosteomyelitis,and
osteochondroma.

Healingfractureofthelefthumeraldiaphysiswithcallusformationinapatientwithosteogenesisimperfecta
(OI).
ViewMediaGallery

Moreover,withincreasingdiseaseseverity,theskulldemonstratespoormineralizationandmultiple
wormian,orintrasutural,bones(seetheimagesbelow).

LateralradiographoftheskullinayoungfemalepatientwithtypeIIIosteogenesisimperfecta(OI)
demonstratesmultiplewormianbones.
ViewMediaGallery

http://emedicine.medscape.com/article/411919overview 5/16
5/29/2017 ImaginginOsteogenesisImperfecta:Overview,Radiography,ComputedTomography

Osteogenesisimperfecta(OI).Correspondinganteroposteriorradiographoftheskullinthesamepatientasin
thepreviousimagedemonstratesmultiplewormianbones.
ViewMediaGallery

Thechestmaybesmall.Multipleribfracturesareoftenfoundthesecancausetheribstobecome
broadanddeformed.Inaddition,spinalabnormalitiesinallsubtypesofosteogenesisimperfecta
includeplatyspondylyandscoliosis(seethesectiononTypeIIIspecificradiographicfeaturesof
osteogenesisimperfecta,below).

Recentadvancesinthetreatmentofosteogenesisimperfectawithbisphosphonateshaveresulted
inspecificimagingfindings.Cyclicalpamidronatetreatmentproducesscleroticgrowthrecovery
linesinthelongbones(seetheimagesbelow).Theamountofbonegrowthbetweendosesof
pamidronatemaybemeasuredbythedistancebetweenthesegrowthlines.

FrontalradiographoftheleginapatientwithtypeIosteogenesisimperfecta(OI)showsevidenceofsevere
osteoporosis,overtubulationofboththetibiaandfibula,andahealingfractureofthetransversediaphysealof
thetibia.Alsonotethemultiplemetaphysealgrowthrecoverylinesaboutthekneeinthispatientwhowas
treatedwithpamidronate.
ViewMediaGallery

http://emedicine.medscape.com/article/411919overview 6/16
5/29/2017 ImaginginOsteogenesisImperfecta:Overview,Radiography,ComputedTomography

Frontalradiographofthepelvisina9yearoldgirlwithtypeIIIosteogenesisimperfecta(OI)andbilateral
healingfemoralfractures.Multiplegrowthrecoverylinesarepresentinthefemoralheadsbilaterallyafter
bisphosphonatetreatment.Scoliosisandsquarediliacbonesarealsodemonstrated.
ViewMediaGallery

Someradiographicfindingsaremorespecifictocertainsubtypesofosteogenesisimperfectathan
others.

TypeIIspecificradiographicfeaturesofosteogenesisimperfecta
TypeIIosteogenesisimperfectaisfurthercategorizedinto3subtypesonthebasisofradiologic
featuresofthelongbonesandribs.IntypesIIAandIIB,thelongbonesareshortandbroad
becauseofundermodelingthebonesarealsocrumpled.IntypeIIC,thelongbonesarethinner
(cylindrical)andlongerthanintheothersubtypes,althoughtheyarestillundermodeled.

TheribsintypeIIAareshortandbroadwithcontinuousbeading.IntypeIIB,beadingisabsentor
minimalanddiscontinuous.IntypeIIC,theribsarethinandbeaded.

TypeIIIspecificradiographicfeaturesofosteogenesisimperfecta

ScoliosisofthethoracolumbarspineisspecifictotypeIIIosteogenesisimperfecta:Asmanyas
25%ofpatientswithosteogenesisimperfectahavescoliosis,andtheassociationisevenhigherin
patientswithtypeIIIdisease(seetheimagebelow).MostaffectedpatientshaveanSshaped
scoliosis.

http://emedicine.medscape.com/article/411919overview 7/16
5/29/2017 ImaginginOsteogenesisImperfecta:Overview,Radiography,ComputedTomography

FrontalradiographinapatientwithtypeIIIosteogenesisimperfecta(OI)withsevereSshapedscoliosisofthe
thoracolumbarspine.
ViewMediaGallery

Severeplatyspondylywithvertebralcompressionfracturesand"codfishvertebrae"aremore
commoninthistypeofosteogenesisimperfectathaninothertypes(seethefollowingimage).

Lateralspinalradiographina1yearoldboywithosteogenesisimperfecta(OI)demonstratesmultilevel,mild
platyspondyly.
ViewMediaGallery

"Popcorncalcifications"alsooccurcommonlyinthemetaphysealepiphysealregionoflongbones,
mostcommonlyatthekneeandankle.Thisresultsfromrepeatedmicrofracturesatthegrowth
plate.

http://emedicine.medscape.com/article/411919overview 8/16
5/29/2017 ImaginginOsteogenesisImperfecta:Overview,Radiography,ComputedTomography

Softcraniofacialboneswithalarge,thincalvariumcausetriangularfacies.

TypeIVspecificradiographicfeaturesofosteogenesisimperfecta
RadiographicfindingsoftypeIVosteogenesisimperfectaaresimilartothegeneralfindingsand
findingsspecifictotypeIdisease.However,onefeaturethatismorecommonlyassociatedwith
typeIVthanothertypesisbasilarinvagination(impression),withorwithoutbrainstem
compression.Thismaybedetectedonplainradiographyoftheskullorcervicalspine.The
McGregorline,asthestraightlineconnectingtheuppersurfaceoftheposterioredgeofthehard
palatetothemostcaudalpointoftheoccipitalcurve,maybeusedtoassessforthiscomplication.
ProjectionofthetipoftheodontoidprocessabovetheMcGregorlinesuggeststhepresenceof
basilarinvagination(seetheCTscanandMRIimagesbelow).

Sagittallyreconstructedcomputedtomographyscanofthecervicalspineina16yearoldfemaleadolescent
withtypeIVosteogenesisimperfecta(OI).Thisimagedemonstratesmildbasilarinvagination,withthetipof
thedensabovetheMcGregorline(red).
ViewMediaGallery

MidlinesagittalT2weightedmagneticresonanceimagethroughthecervicalspineina16yearoldfemale
adolescentwithtypeIVosteogenesisimperfecta(OI).Thisimagedemonstratesmildstenosisattheforamen
magnum,causedbybasilarinvagination(effectivewidthofforamenmagnumdenotedbyredline).

http://emedicine.medscape.com/article/411919overview 9/16
5/29/2017 ImaginginOsteogenesisImperfecta:Overview,Radiography,ComputedTomography

ViewMediaGallery

Thepresenceofalarge,thincraniumwithplatybasiaandcranialsettlingmayleadtothe
appearanceoftheTamO'Shanterskull.

Degreeofconfidence
Uponthedetectionofhallmarkbonefindingsofosteogenesisimperfectaonplainradiographs,the
diagnosismaybemadewithahighdegreeofconfidenceconfirmationwithotherimaging
modalitiesisnotneeded.

ComputedTomography
Currently,themajorroleofCTscanningisinadjunctiveproblemsolving.Thismodalitymaybe
usedtofurtherassessforbasilarimpression(seetheimagebelow)toevaluatethepetrousbone
fornarrowingofthemiddleearorotosclerosis,andtosupportbonemineraldensitometry(BMD)
(seeNuclearMedicine,below).[15]

Sagittallyreconstructedcomputedtomographyscanofthecervicalspineina16yearoldfemaleadolescent
withtypeIVosteogenesisimperfecta(OI).Thisimagedemonstratesmildbasilarinvagination,withthetipof
thedensabovetheMcGregorline(red).
ViewMediaGallery

ThefollowingisanMRIthroughthecervicalspineinthesamepatientasintheCTscanabove.

http://emedicine.medscape.com/article/411919overview 10/16
5/29/2017 ImaginginOsteogenesisImperfecta:Overview,Radiography,ComputedTomography

MidlinesagittalT2weightedmagneticresonanceimagethroughthecervicalspineina16yearoldfemale
adolescentwithtypeIVosteogenesisimperfecta(OI).Thisimagedemonstratesmildstenosisattheforamen
magnum,causedbybasilarinvagination(effectivewidthofforamenmagnumdenotedbyredline).
ViewMediaGallery

MagneticResonanceImaging
ThemajorroleofMRIinosteogenesisimperfectaisinproblemsolving.MRIisalsousedtoimage
complicationsofthisdisease,suchasbasilarimpression.Althoughcervicalspinalradiographyand
CTscanning(seethefirstimagebelow)maydemonstratethisabnormalitywell,MRIhasthe
advantageofdetectingassociatedcompressionofthespinalcord(seethesecondimagebelow,
whichisfromthesamepatientasthatoftheCTscaninthefirstimage).[15]

Sagittallyreconstructedcomputedtomographyscanofthecervicalspineina16yearoldfemaleadolescent
withtypeIVosteogenesisimperfecta(OI).Thisimagedemonstratesmildbasilarinvagination,withthetipof
thedensabovetheMcGregorline(red).
ViewMediaGallery

http://emedicine.medscape.com/article/411919overview 11/16
5/29/2017 ImaginginOsteogenesisImperfecta:Overview,Radiography,ComputedTomography

MidlinesagittalT2weightedmagneticresonanceimagethroughthecervicalspineina16yearoldfemale
adolescentwithtypeIVosteogenesisimperfecta(OI).Thisimagedemonstratesmildstenosisattheforamen
magnum,causedbybasilarinvagination(effectivewidthofforamenmagnumdenotedbyredline).
ViewMediaGallery

BasilarimpressionisfrequentlyassociatedwithtypeIVosteogenesisimperfecta.Inparticular,in
typeIVBdisease,theincidenceofneurologicsymptomsisincreased.Otherassociatedconditions
thatmaybeimagedbetterwithMRIthanwithplainradiographyincludesyringohydromyeliaand
communicatinghydrocephalus,especiallyiftheseconditionsdevelopafterfontanelleclosure.

Ultrasonography
Osteogenesisimperfectaisoneofthemostcommonskeletaldysplasiasdetectedonprenatal
ultrasonography.MostcasesinvolvetypeIIdiseaseandarefoundincidentally.

Firsttrimesterofpregnancy
Thediagnosisofosteogenesisimperfectamaybemadereliablybyweek17ofgestation.The
diagnosismaybemadebydetectingmorphologicabnormalitiesonultrasonogramsorbyanalyzing
collagensynthesizedbychorionicvilluscellsafterultrasonographyguidedchorionicvillus
sampling.

Secondtrimesterofpregnancy

Ultrasonographicfindingsofosteogenesisimperfectaduringthesecondtrimesterscanninginclude
decreasedechoesfromthecalvariumwithsupervisualized(tooeasilyseen)intracranialstructures
bowingandangulationofthelongbones,implyingplaticdeformitiesandfracturesdecreased
lengthofthelongbonesandmultipleribfractures.[21]

NuclearImaging
Bonemineraldensitometry(BMD)resultsmayconfirmtheseverityofosteoporosisinpatientswith
osteogenesisimperfectaitmayalsoconfirmthepresenceofdemineralizationinmildcasesoftype
IortypeIVdisease.
http://emedicine.medscape.com/article/411919overview 12/16
5/29/2017 ImaginginOsteogenesisImperfecta:Overview,Radiography,ComputedTomography

CurrentlyacceptedBMDmeasurementtechniquesincludethefollowing:(1)corticalradialBMD
measuredbyuseofsinglephotonabsorptiometry(SPA)(2)BMDofthelumbarspine(inchildren
olderthan1y)andfemoralneck(inchildrenolderthan6y),inwhichBMDisobtainedbyuseof
dualenergyxrayabsorptiometry(DXA)and(3)lumbarspinalBMDmeasuredbymeansofCT
scanninginchildrenolderthan4years.

Degreeofconfidence
Thereareonlyafewreportedcasesinwhichbonemineraldensitometrymeasurementswere
madeinyoungchildrenwithosteogenesisimperfectaassuch,thereliabilityofthese
measurementsisunknown.

References

1.ByraP,ChillagS,PetitS.Osteogenesisimperfectaandaorticdissection.AmJMedSci.
2008Jul.336(1):702.[Medline].

2.HasegawaK,KataokaK,InoueM,SeinoY,MorishimaT,TanakaH.Impairedpyridinoline
crosslinkformationinpatientswithosteogenesisimperfecta.JBoneMinerMetab.2008.
26(4):3949.[Medline].

3.BrusinJH.Osteogenesisimperfecta.RadiolTechnol.2008JulAug.79(6):53548.[Medline].

4.BurneiG,VladC,GeorgescuI,GavriliuTS,DanD.Osteogenesisimperfecta:diagnosisand
treatment.JAmAcadOrthopSurg.2008Jun.16(6):35666.[Medline].

5.CheungMS,GlorieuxFH.OsteogenesisImperfecta:updateonpresentationand
management.RevEndocrMetabDisord.2008Jun.9(2):15360.[Medline].

6.TainmontJ.Historyofosteogenesisimperfectaorbrittlebonedisease:afewstopsonaroad
3000yearslong.BENT.2007.3(3):15773.[Medline].

7.ForlinoA,MariniJC.Osteogenesisimperfecta.Lancet.2015Nov2.[Medline].

8.MariniJ,SmithSM,DeGrootLJ,BeckPeccozP,ChrousosG,DunganK,etal.
OsteogenesisImperfecta.2000.[Medline].[FullText].

9.GlorieuxFH,RauchF,PlotkinH,etal.TypeVosteogenesisimperfecta:anewformofbrittle
bonedisease.JBoneMinerRes.2000Sep.15(9):16508.[Medline].

10.KornblumM,StanitskiDF.Spinalmanifestationsofskeletaldysplasias.OrthopClinNorth
Am.1999Jul.30(3):50120.[Medline].

11.SillenceD.Osteogenesisimperfecta:anexpandingpanoramaofvariants.ClinOrthop.1981
Sep.1125.[Medline].

12.KirksDR,ed.MusculoskeletalSystem.PracticalPediatricImaging:DiagnosticRadiologyof
InfantsandChildren.3rded.1998:3623.

13.TaybiH,LachmanRS.OsteogenesisImperfecta.RadiologyofSyndromes,Metabolic
Disorders,andSkeletalDysplasias,4thed.1996:87682.

14.RenaudA,AucourtJ,WeillJ,BigotJ,DieuxA,DevismeL,etal.Radiographicfeaturesof
osteogenesisimperfecta.InsightsImaging.2013Aug.4(4):41729.[Medline].

15.SwinnenFK,CasselmanJW,DeLeenheerEM,CremersCW,DhoogeIJ.Temporalbone
imaginginosteogenesisimperfectapatientswithhearingloss.Laryngoscope.2013Aug.123
(8):198895.[Medline].

http://emedicine.medscape.com/article/411919overview 13/16
5/29/2017 ImaginginOsteogenesisImperfecta:Overview,Radiography,ComputedTomography

16.CalderAD.RadiologyofOsteogenesisImperfecta,RicketsandOtherBonyFragilityStates.
EndocrDev.2015.28:5671.[Medline].

17.AblinDS.Osteogenesisimperfecta:areview.CanAssocRadiolJ.1998Apr.49(2):11023.
[Medline].

18.ColeWG.Advancesinosteogenesisimperfecta.ClinOrthop.2002Aug.616.[Medline].

19.AblinDS,GreenspanA,ReinhartM,GrixA.Differentiationofchildabusefromosteogenesis
imperfecta.AJRAmJRoentgenol.1990May.154(5):103546.[Medline].

20.KleinmanPK.DifferentialDiagnosisII:OsteogenesisImperfecta.DiagnosticImagingofChild
Abuse.2nded.1998:197213.

21.KrakowD,AlanayY,RimoinLP,LinV,WilcoxWR,LachmanRS,etal.Evaluationof
prenatalonsetosteochondrodysplasiasbyultrasonography:Aretrospectiveandprospective
analysis.AmJMedGenetA.2008Jul14.[Medline].

MediaGallery

FrontalradiographoftheleginapatientwithtypeIosteogenesisimperfecta(OI)shows
evidenceofsevereosteoporosis,overtubulationofboththetibiaandfibula,andahealing
fractureofthetransversediaphysealofthetibia.Alsonotethemultiplemetaphysealgrowth
recoverylinesaboutthekneeinthispatientwhowastreatedwithpamidronate.
Frontalradiographoftheforearmina17yearoldfemaleadolescentwithtypeIosteogenesis
imperfecta(OI)showsosteoporosis,bowingdeformitieswithovertubulationoftheradius,a
healedulnarfracture,andcallusformationoverthedistalhumerus.Growthrecoverylines
arepresentinthedistalradius.
Healingfractureofthelefthumeraldiaphysiswithcallusformationinapatientwith
osteogenesisimperfecta(OI).
LateralradiographoftheskullinayoungfemalepatientwithtypeIIIosteogenesisimperfecta
(OI)demonstratesmultiplewormianbones.
Osteogenesisimperfecta(OI).Correspondinganteroposteriorradiographoftheskullinthe
samepatientasinthepreviousimagedemonstratesmultiplewormianbones.
Frontalradiographofthepelvisina9yearoldgirlwithtypeIIIosteogenesisimperfecta(OI)
andbilateralhealingfemoralfractures.Multiplegrowthrecoverylinesarepresentinthe
femoralheadsbilaterallyafterbisphosphonatetreatment.Scoliosisandsquarediliacbones
arealsodemonstrated.
FrontalradiographinapatientwithtypeIIIosteogenesisimperfecta(OI)withsevereS
shapedscoliosisofthethoracolumbarspine.
Lateralspinalradiographina1yearoldboywithosteogenesisimperfecta(OI)demonstrates
multilevel,mildplatyspondyly.
Sagittallyreconstructedcomputedtomographyscanofthecervicalspineina16yearold
femaleadolescentwithtypeIVosteogenesisimperfecta(OI).Thisimagedemonstratesmild
basilarinvagination,withthetipofthedensabovetheMcGregorline(red).
MidlinesagittalT2weightedmagneticresonanceimagethroughthecervicalspineina16
yearoldfemaleadolescentwithtypeIVosteogenesisimperfecta(OI).Thisimage
demonstratesmildstenosisattheforamenmagnum,causedbybasilarinvagination(effective
widthofforamenmagnumdenotedbyredline).

of10

Tables

BacktoList
http://emedicine.medscape.com/article/411919overview 14/16
5/29/2017 ImaginginOsteogenesisImperfecta:Overview,Radiography,ComputedTomography
ContributorInformationandDisclosures

Author

AnishKirpalani,MDConsultingRadiologist,TexasRadiologyAssociates,LLP

AnishKirpalani,MDisamemberofthefollowingmedicalsocieties:AmericanRoentgenRay
Society,RadiologicalSocietyofNorthAmerica,InternationalSocietyforMagneticResonancein
Medicine,CanadianAssociationofRadiologists

Disclosure:Nothingtodisclose.

Coauthor(s)

PaulSBabyn,MDAssociateProfessor,DepartmentofMedicalImaging,UniversityofToronto
RadiologistinChief,DepartmentofDiagnosticImaging,TheHospitalforSickChildren

PaulSBabyn,MDisamemberofthefollowingmedicalsocieties:RadiologicalSocietyofNorth
America

Disclosure:Nothingtodisclose.

SpecialtyEditorBoard

BernardDCoombs,MB,ChB,PhDConsultingStaff,DepartmentofSpecialistRehabilitation
Services,HuttValleyDistrictHealthBoard,NewZealand

Disclosure:Nothingtodisclose.

MartaHernanzSchulman,MD,FAAP,FACRProfessor,RadiologyandRadiologicalSciences,
ProfessorofPediatrics,DepartmentofRadiology,ViceChairinPediatrics,MedicalDirector,
DiagnosticImaging,VanderbiltChildren'sHospital

MartaHernanzSchulman,MD,FAAP,FACRisamemberofthefollowingmedicalsocieties:
AmericanInstituteofUltrasoundinMedicine,AmericanRoentgenRaySociety

Disclosure:Nothingtodisclose.

ChiefEditor

FelixSChew,MD,MBA,MEdProfessor,DepartmentofRadiology,ViceChairmanforAcademic
Innovation,SectionHeadofMusculoskeletalRadiology,UniversityofWashingtonSchoolof
Medicine

FelixSChew,MD,MBA,MEdisamemberofthefollowingmedicalsocieties:AmericanRoentgen
RaySociety,AssociationofUniversityRadiologists,RadiologicalSocietyofNorthAmerica

Disclosure:Nothingtodisclose.

AdditionalContributors

HarrisLCohen,MD,FACRChairman,DepartmentofRadiology,ProfessorofRadiology,
Pediatrics,andObstetricsandGynecology,UniversityofTennesseeHealthScienceCenter
CollegeofMedicineRadiologistinChief,LeBonheurChildren'sHospitalEmeritusProfessorof
Radiology,TheSchoolofMedicineatStonyBrookUniversity

HarrisLCohen,MD,FACRisamemberofthefollowingmedicalsocieties:AmericanCollegeof
Radiology,AmericanInstituteofUltrasoundinMedicine,RadiologicalSocietyofNorthAmerica,
SocietyforPediatricRadiology,AssociationofProgramDirectorsinRadiology,Societyof
http://emedicine.medscape.com/article/411919overview 15/16
5/29/2017 ImaginginOsteogenesisImperfecta:Overview,Radiography,ComputedTomography

RadiologistsinUltrasound

Disclosure:Nothingtodisclose.

http://emedicine.medscape.com/article/411919overview 16/16

Anda mungkin juga menyukai