ultrasound diagnosis of fatal anomalies

INDEX
Smith–Lemli–Optitz syndrome 273–4, 275–6,
277, 344–5
Apert syndrome d.d. 237
arthrogryposis multiplex congenita association
154
cataract d.d. 47
CHARGE association d.d. 242, 274
Cornelia de Lange syndrome d.d. 243, 274
Dandy–Walker syndrome association 34,
220
Freeman–Sheldon syndrome d.d. 245
Fryns syndrome d.d. 246
genital anomalies 124, 273, 274
hydrolethalus d.d. 250
intrauterine growth restriction 274, 316
Meckel–Gruber syndrome d.d. 256, 274
Miller–Diecker syndrome d.d. 258
Mohr syndrome d.d. 260, 274
Neu–Laxova syndrome d.d. 265
Noonan syndrome d.d. 266
nuchal translucency 228
Pena–Shokeir syndrome d.d. 269
polydactyly association 163, 275, 276
renal agenesis association 135
trisomy 13 d.d. 274
trisomy 18 d.d. 194
trisomy 21 d.d. 205
Turner syndrome d.d. 211
Sotos syndrome 239, 315, 318, 344–5
spina bifida 24, 36, 51, 133, 199, 281
aperta 51, 52–5, 56
Jacobsen syndrome d.d. 179
spinal dysraphism 225
spine see vertebral column
spondyloepiphyseal dysplasia 148, 155,
344–5
stomach 2, 7, 8, 15
displacement 8
strawberry sign 183, 194, 219
subdural hematoma 46
superior vena cava 9
supraventricular tachycardia 100
swallowing reflex 27, 56, 59
symphysis, clefting 123
syndactyly 236, 237–8, 243, 259, 274
syphilis 43, 286, 289, 291
T
Tabatzniksyndrome 249
tachyarrhythmia 89
tachycardia 100–1
talipes see foot, club
TAR syndrome see thrombocytopenia–absent
radius (TAR) syndrome
Taussig–Bing anomaly 88
teardrop sign 30, 32
teratoma 56–7, 100, 140–2
testes
hydrocele 126
undescended 89, 186
testicular feminization 124
tetralogy of Fallot 9, 93, 94–5, 96
diabetes mellitus 318
double-outlet right ventricle d.d. 88
trisomy 18 96, 196
trisomy 21 96, 205
tetrasomy 12 p see Pallister–Killian syndrome
alpha-thalassemia 328–9
thalidomide
anal atresia 106
duodenal atresia 108
Holt–Oram syndrome d.d. 249
hydronephrosis 130
intestinal atresia and stenosis 110
radius aplasia/hypoplasia 166
spina bifida 51
TAR syndrome d.d. 277
tetralogy of Fallot 93
thanatophoric dysplasia 171, 172–4, 175, 344–5
Apert syndrome d.d. 237
camptomelic dysplasia d.d. 157
Crouzon syndrome d.d. 244
diastrophic dysplasia d.d. 155
nuchal translucency 228
short rib–polydactyly syndrome d.d. 169,
171
thoracic dystrophy, asphyxiating 171
thoraco-abdominal circumference 354, 358
thoraco-abdominal diameter 353
thoraco-abdominoschisis 240
thorax 12, 21, 69–79
asphyxiating dysplasia 328–9
bowel herniation 77
diameter 356
dysplasia 169
screening 4, 5, 8
short rib–polydactyly syndrome 168, 169
thanatophoric dysplasia 171, 172, 173
Turner syndrome 212, 213
three lines sign 31
thrombocytopenia 166
thrombocytopenia–absent radius (TAR) syndrome
166, 220, 277–8, 344–5
Cornelia de Lange syndrome d.d. 243
Holt–Oram syndrome d.d. 249
Nager syndrome d.d. 264, 277
Shprintzen syndrome d.d. 273
VACTERL association d.d. 277, 280
thumb deformities 28, 43, 155, 245
thyroid, enlarged 66
tibia 157, 174, 355
tongue anomalies 259
TORCH 28
corpus callosum agenesis 33
Dandy–Walker syndrome 35
encephalocele 36
hydranencephaly 42
hydrocephalus internus 43
intracranial bleeding 46
Walker–Warburg syndrome d.d. 282
Townes–Brocksyndrome 166, 344–5
toxoplasmosis 27, 43, 286, 292
cataract d.d. 47
Neu–Laxova syndrome d.d. 265
parvovirus B19 d.d. 291
tracheo-esophageal fistula 72, 87, 133, 279
Treacher–Collins syndrome 242, 248, 264,
344–5
tricuspid valve 5, 12, 89
trigonocephaly 179
trimethadione 93, 101
triple test 178, 204–5
triplets 302, 305
triploidy 180, 181–3, 184, 348–9
corpus callosum agenesis association 30,
180
Dandy–Walker syndrome association 34,
220
genital anomalies 124, 184
holoprosencephaly association 39, 180
hygroma colli association 63
intrauterine growth restriction 180, 181, 316
Miller–Diecker syndrome d.d. 258
multiple pterygium syndrome d.d. 263
nuchal translucency 228
omphalocele association 120
polydactyly 165
Shprintzen syndrome d.d. 273
trisomy 9 d.d. 180, 186
trisomy 18 d.d. 180, 194
ventriculomegaly 225
Wolf–Hirschhorn syndrome d.d. 217
trisomies
fetal hydrops 286
Fryns syndrome d.d. 246
hypoplasia of left heart association 96
nuchal translucency 228
radius aplasia/hypoplasia association 166
triploidy d.d. 180, 186, 194
urethral valve sequence 144
ventriculomegaly 225
trisomy 8 185
mosaic 154, 185
trisomy 9 186, 217, 220, 223, 258
mosaic 180, 194, 348–9
partial 76, 186
trisomy 10 187, 316
mosaic 348–9
trisomy 13 187–9, 190–2, 193, 348–9
brachycephaly 219
CHARGE association d.d. 242
corpus callosum agenesis association 30
echogenic kidneys 223
facial cleft association 59, 62, 188, 189
genital anomalies 124
Goldenhar syndrome association 248
holoprosencephaly association 39, 40, 188
Holt–Oram syndrome d.d. 249
hydrolethalus d.d. 250
hygroma colli association 63, 188
infantile polycystic kidney disease 131, 132
Jacobsen syndrome d.d. 179
Meckel–Gruber syndrome d.d. 189, 256
Miller–Diecker syndrome d.d. 258
omphalocele association 120, 188, 190
polydactyly 163, 164, 188, 190, 192
Smith–Lemli–Optitz syndrome d.d. 274
TAR syndrome d.d. 277
trisomy 9 d.d. 186
VACTERL association d.d. 280
ventricular septal defect 104
Walker–Warburg syndrome d.d. 282
trisomy 18 193–6, 197–203, 348–9
arthrogryposis multiplex congenita association
154
CHARGE association d.d. 242
choroid plexus cysts 229, 230
corpus callosum agenesis association 30,
194
Dandy–Walker syndrome association 34,
220
diaphragmatic hernia association 76, 194
double-outlet right ventricle association 88
Freeman–Sheldon syndrome d.d. 194, 245
Goldenhar syndrome association 248
holoprosencephaly association 39
Holt–Oram syndrome d.d. 249
hygroma colli association 63, 200
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