Fetal Radiology: A Diagnostic Atlas PDF
Preview Fetal Radiology: A Diagnostic Atlas
R.Schumacher · L.Seaver· J.Spranger Fetal Radiology 2ndEdition Reinhard Schumacher Laurie H. Seaver Jürgen Spranger Fetal Radiology A Diagnostic Atlas 2nd Edition With 113 Figures in 238 Individual Illustrations and 51 Tables ProfessorDr.med.ReinhardSchumacher SektionPädiatrischeGenetik ZentrumfürKinder-undJugendmedizin UniversitätsklinikumFreiburg Mathildenstraße1 79106Freiburg(Breisgau),Germany LaurieH.Seaver,MD KapiolaniMedicalCenterforWomen&Children Div.HawaiiCommunityGenetics 1441KapiolaniBlvd.,Suite1800 Honolulu,HI96814 USA ProfessorDr.med.JürgenSpranger SektionPädiatrischeGenetik ZentrumfürKinder-undJugendmedizin UniversitätsklinikumFreiburg Mathildenstraße1 79106Freiburg(Breisgau),Germany GreenwoodGeneticCenter 1GregorMendelCircle Greenwood,SC29646,USA ISBN978-3-642-03559-3 eISBN978-3-642-03560-9 DOI10.1007/978-3-642-03560-9 Springer-VerlagHeidelbergDordrechtLondonNewYork LibraryofCongressControlNumber:2010932607 ˇ Springer-VerlagBerlinHeidelberg2010 Thisworkissubjecttocopyright.Allrightsarereserved,whetherthewholeorpartof thematerialisconcerned,specificallytherightsoftranslation,reprinting,reuseofillus- trations,recitation,broadcasting,reproductiononmicrofilmorinanyotherway,and storageindatabanks.Duplicationofthispublicationorpartsthereofispermittedonly undertheprovisionsoftheGermanCopyrightLawofSeptember9,1965,initscurrent version,andpermissionforusemustalwaysbeobtainedfromSpringer-Verlag.Viola- tionsareliableforprosecutionundertheGermanCopyrightLaw. Theuseofgeneraldescriptivenames,registerednames,trademarks,etc.inthispublica- tiondoesnotimply,evenintheabsenceofaspecificstatement,thatsuchnamesare exemptfromtherelevantprotectivelawsandregulationsandthereforefreeforgeneral use. Productliability:Thepublisherscannotguaranteetheaccuracyofanyinformation aboutdosageandapplicationcontainedinthisbook.Ineveryindividualcasetheuser mustchecksuchinformationbyconsultingtherelevantliterature. Coverdesign:eStudioCalamar,Figueres/Berlin Printedonacid-freepaper SpringerisapartofSpringerScience+BusinessMedia(www.springer.com) Preface to the Second Edition ThefirsteditionofFetalRadiologywassoldoutfastnecessitatingasecondeditionwith- in a relatively short period of time.This second edition preserves the character of the book as an illustrated reference for the stages of normal prenatal skeletal development andasastructuredtoolfortheradiologicdiagnosisoffetalanomalies.Theauthorshave refrained fromincludingMR images.Thismethod isat themoment not suitablefor a detailedskeletaldiagnosis. Thefollowingmajorchangeshavebeenmade. Chapter1nowcoverstheskeletaldevelopmentbetweenthe9thand24thgestational week.Theoftenverysubtlemilestonesduringthedevelopmentareillustratedseparately andenlarged. Chapter 2 has been revised and the spectrum of differential diagnoses has been ex- panded.Illustrationsofkeyfindingshavebeenseparatelyenlargedtostresstheirimpor- tance. Chapter3hasbeenthoroughlyrevisedtokeepupwiththeprogressmadeinthefield ofosteochondrodysplasiasduringthelastfewyears. TheAuthors Contents Introduction ....................................................... 1 1 DevelopmentoftheNormalFetalSkeleton Introduction .......................................................... 3 2 DifferentialDiagnosisofSingleSkeletalDefects Introduction .......................................................... 31 Limbs Amelia–Amputation–Phocomelia..................................... 32 Radiusand/orThumb:Aplasia,Hypoplasia .............................. 36 Radio-ulnarSynostosis................................................ 40 Ulna:Aplasia,Hypoplasia ............................................. 42 Humerus:Aplasia,Hypoplasia.......................................... 44 Tibia:Aplasia,Hypoplasia ............................................. 46 Fibula:Aplasia,Hypoplasia ............................................ 48 Femur:Aplasia,Hypoplasia ............................................ 50 Femur:Bowing ...................................................... 53 StippledEpiphyses–StippledOssificationofCartilage...................... 56 Hands/Feet:Absent................................................... 58 Hands/Feet:Split/Cleft/Ectrodactyly..................................... 60 Hands/Feet:PreaxialPolydactyly........................................ 63 Hands/Feet:PostaxialPolydactyly ....................................... 66 Skull PrematureCranialSynostosis/CloverleafSkull ............................ 70 UnossifiedandHypo-ossifiedCalvaria................................... 73 Encephalocele ...................................................... 75 Anencephaly/Myelomeningocele/Spinabifida ............................. 78 Spine VertebralSegmentationDefects/Hemivertebrae/VertebralFusion ............. 80 Pelvic-SacralAbnormalities SacralAgenesis/Hypogenesis/CaudalDysplasia;PubicBoneDysgenesis ..... 86 CoronalCleftsofVertebralBodies ...................................... 90 Platyspondyly ....................................................... 93 VentralBodyWallDefects EctopiaCordis ...................................................... 94 VentralWallDefects/Omphalocele/Gastroschisis .......................... 96 3 SkeletalDysplasias Introduction .......................................................... 99 A.SkeletalDysplasiaswithProminentShortnessoftheTubularBones ThanatophoricDysplasiaI............................................. 100 ThanatophoricDysplasiaII ............................................ 102 Achondroplasia...................................................... 104 MetatropicDysplasia ................................................. 106 Fibrochondrogenesis ................................................. 108 SchneckenbeckenDysplasia............................................ 110 LethalMetaphysealChondrodysplasia,SedaghatianType.................... 111 Achondrogenesis1A.................................................. 112 Achondrogenesis1B .................................................. 113 AchondrogenesisType2/Hypochondrogenesis ............................ 114 PlatyspondylicDysplasia,Torrance-LutonType ........................... 116 KniestDysplasia/SpondyloepiphysealDysplasiaCongenita .................. 118 VIII Contents B. SkeletalDysplasiaswithCongenitalBowingandNormalBoneDensity DyssegmentalDysplasia ............................................... 120 Schwartz-JampelSyndrome............................................ 122 Cartilage-HairHypoplasia ............................................. 123 CampomelicDysplasia................................................ 124 C. SkeletalDysplasiawithDecreasedBoneDensity,withorwithoutBowing Antley-BixlerSyndrome............................................... 126 OsteogenesisImperfecta .............................................. 128 InfantileHypophosphatasia............................................ 131 JansenMetaphysealDysplasia .......................................... 133 Stüve-WiedemannSyndrome .......................................... 134 Oto-palato-digitalSyndromeTypeII .................................... 136 D.SkeletalDysplasiaswithSlenderTubularBones Fetala/HypokinesiaSequence .......................................... 138 Osteocraniostenosis .................................................. 140 GracileBoneDysplasia................................................ 142 MicrocephalicOsteodysplasticPrimordialDwarfism,Type1................. 143 MicrocephalicOsteodysplasticPrimordialDwarfism,Type2................. 144 E. SkeletalDysplasiaswithThickTubularBones MucolipidosisII ..................................................... 145 InfantileCorticalHyperostosis ......................................... 146 F. SkeletalDysplasiaswithShortRibs,withorwithoutPolydactyly SRP,Saldino-Noonan/Verma-NaumoffType.............................. 147 SRP,Beemer-LangerType ............................................. 149 AsphyxiatingThoracicDysplasia........................................ 150 SRP,MajewskiType .................................................. 152 Ellis-vanCreveldSyndrome............................................ 153 G.ChondrodysplasiaPunctataGroup GreenbergDysplasia.................................................. 155 ChondrodysplasiaPunctata,X-linkedDominantType ...................... 156 ChondrodysplasiaPunctata,X-linkedRecessiveType ....................... 158 ChondrodysplasiaPunctata,RhizomelicType ............................. 159 H.SkeletalDysplasiaswithMultipleDislocations LarsenSyndrome .................................................... 161 Atelosteogenesis ..................................................... 163 DesbuquoisDysplasia................................................. 165 I. SkeletalDysplasiaswithProminentInvolvementoftheHumeriorClavicles DelaChapelleDysplasia .............................................. 167 DiastrophicDysplasia................................................. 168 Omodysplasia ....................................................... 170 CleidocranialDysplasia ............................................... 171 K. DysplasiaswithProminentInvolvementoftheMesialandAcralSkeleton MesomelicDysplasia,LangerType ...................................... 173 RobinowSyndrome .................................................. 174 NievergeltSyndrome ................................................. 176 GrebeDysplasia ..................................................... 177 L. SkeletalDysplasiaswithIncreasedBoneDensity InfantileOsteopetrosis ................................................ 179 BlomstrandSyndrome ................................................ 181 Lenz-MajewskiHyperostoticDysplasia .................................. 182 Annex ............................................................ 184 SubjectIndex ...................................................... 209 Acknowledgements Thisbookcouldnothavebeenwrittenwithoutthehelpofmanyphysicianswhoprovid- edmaterialforconsultation.OurheartfeltthanksgotoHorstMüntefering,whoduring his long tenure as head of the Department of Pediatric Pathology of the University of Mainz oversawthediagnosisand classification of fetal material,securingtheestablish- mentof aremarkablecollectionof fetalspecimens.Wegratefullyacknowledgethehelp ofDr.TimTralau,whofaithfullyassistedintheradiographicdocumentationandselec- tion of cases.We are indebted to Springer-Verlag,notably to Dr.U.Heilmann,Mrs D. Mennecke-Bühler,Mr C.-D.Bachem and Mr J.W.Schmidt,for their commitment,pa- tienceandexpertiseinproducingthisbook. Freiburg/Greenwood R.Schumacher L.Seaver J.Spranger
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