Table Of ContentR.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
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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
