ultrasound diagnosis of fatal anomalies
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INDEX
1
2
3
4
5
Pena-Shokeir syndrome
trisomy 18 d.d. 194, 269
Pendred syndrome 66
penis 127
see also hypospadias
pericallosal artery 32, 33
pericardial effusion 286, 297, 303, 311
perinatal mortality 2, 20, 302
periventricular leukomalacia 311, 312
Perlman syndrome 223, 239, 340–1
pes equinovarus see foot, club
Peters anomaly 43, 340–1
Pfeiffer syndrome 225, 237, 244, 250, 340–1
phenobarbiturate 319
phenylketonuria, maternal 48, 59
phenytoin 39, 319
Pierre Robin sequence 59, 264, 270–1, 340–1
placenta 9, 20
Beckwith–Wiedemann syndrome 239
chorioangioma 286, 297
enlarged 289, 291
insufficiency 2, 231, 302, 303
rhesus incompatibility 287
triploidy 180, 181
pleural effusion 286, 290, 291, 303, 311
polycystic kidney disease, infantile 131–3, 188,
223, 256, 336–7
polycystic renal dysplasia 131
polydactyly 163, 164–5, 166
Ellis–van Creveld syndrome 163, 244, 245
hydrolethalus 163, 249
infantile polycystic kidney disease association
131
Meckel–Gruber syndrome 163, 255, 256,
258
Mohr syndrome 163, 259
short rib–polydactyly syndrome 163, 168,
169
Smith–Lemli–Optitz syndrome 163, 275, 276
trisomy 13 163, 164, 188, 190, 192
trisomy 18 199
polysyndactyly 169
porencephaly 47, 48
see also hydranencephaly
Potter syndrome 256, 340–1
see also renal dysplasia, multicystic
preeclampsia, intracranial bleeding 46
pregnancy 2, 8
see also gestation, multiple
prematurity 302, 309, 312
propylthiouracil 66
Proteus syndrome 150, 251
prune belly syndrome 144, 342–3
pseudohermaphroditism 124
pseudothalidomide syndrome 277
pterygium colli 63
pulmonary artery 9, 84, 95
pulmonary hypoplasia 169, 171, 175, 246
hydrolethalus 249
multiple pterygium syndrome 260, 263
oligohydramnios 301
Pena–Shokeir syndrome 267
pulmonary stenosis 9, 82, 89
pulmonary trunk 13, 94, 95
pulmonary valve 9, 95
pulmonary vein 9, 14
pulse repetition frequency (PRF) 9
Q
11q deletion see Jacobsen syndrome
13q syndrome 124
quadruplets 302, 305
R
radiation exposure 39, 48, 59
radius 166–7, 355
aplasia 166–7, 277–8
renal agenesis 8, 135, 136, 137
congenital cystic adenomatoid malformation
of lung association 69
hypoplasia of left heart association 96
MURCS association 135, 263
VACTERL association 135, 280
ventriculomegaly 225
see also kidneys
renal anomalies
anencephaly association 24
anticonvulsive drugs 319
cardiac rhabdomyoma association 99
caudal regression syndrome 135, 250
diabetes mellitus 135, 318
Jacobsen syndrome 179
Mohr syndrome 259
short rib–polydactyly syndrome 135, 171
triploidy 184
trisomy 9 186
trisomy 18 194
trisomy 21 209
Turner syndrome 211
VACTERL association 279
Wolf–Hirschhorn syndrome 216, 217
renal aplasia 89
renal arteries 7, 136
Doppler flow 8, 16
renal agenesis 136–7
Smith–Lemli–Optitz syndrome 275
renal caliceal system 15
renal disease 301
renal dysplasia, multicystic 133–4, 223, 246,
255
renal malformations 135, 185, 258
renal pelvis 6, 226, 357
renal vein thrombosis 138
renal volume 357
retinal dysplasia 282
retinoic acid 72
retrogenia 270
retroperitoneum 16
rhesus incompatibility 287–8
ribs 168, 169
see also short rib–polydactyly syndrome
Roberts syndrome 59, 228, 342–3
Apert syndrome d.d. 237
camptomelic dysplasia d.d. 157
cataract d.d. 47
Cornelia de Lange syndrome d.d. 243
diastrophic dysplasia d.d. 155
Fryns syndrome d.d. 246
hydrolethalus d.d. 250
Miller–Diecker syndrome d.d. 258
multiple pterygium syndrome d.d. 263
Nager syndrome d.d. 264
Noonan syndrome d.d. 266
Shprintzen syndrome d.d. 273
TAR syndrome d.d. 277
trisomy 21 d.d. 205
Turner syndrome d.d. 211
VACTERL association d.d. 280
ventriculomegaly 225
Robertson translocation 65
Rogers syndrome 249
Rokitansky–Küster–Mayer complex 342–3
rubella 27, 29, 36, 47, 265
Rubinstein–Taybi syndrome 272
Rüdiger syndrome 246
Russell–Silver syndrome 148, 180, 272, 316,
342–3
S
sacrococcygeal teratoma 140–2, 251
sacrum absence 250
Saldino–Noonan and Naumoff syndrome
342–3
Schinzel–Giedion syndrome 246, 342–3
Schwartz–Jampel syndrome 245
sclera, blue 159, 160
screening, ultrasound 2–21
first (8–11 weeks) 2–3, 4–7
second (18–21 weeks) 8–9, 10–19, 324–7
scrotum bipartitum 128, 129
Seckel syndrome 316, 342–3
Freeman–Sheldon syndrome d.d. 245
Miller–Diecker syndrome d.d. 258
multiple pterygium syndrome d.d. 263
Neu-Laxova syndrome d.d. 265
Shprintzen syndrome d.d. 273
triploidy d.d. 180
septum pellucidum 8, 249
sex steroids 93, 101
short-bowel syndrome 111, 114, 116
short rib–polydactyly syndrome 59, 135, 163,
168–9, 170, 171
Ellis–van Creveld syndrome d.d. 169, 171,
245
Meckel–Gruber syndrome d.d. 256
parvovirus B19 d.d. 291
Smith–Lemli–Optitz syndrome d.d. 274
SHORT syndrome 272
shoulder dystocia 315, 318
Shprintzen syndrome 39, 120, 148, 258, 273,
342–3
shunts
pleuroamniotic 75
ventriculo-atrial/-peritoneal 28
Simpson–Golabi–Behmel syndrome 239,
342–3
sinus bradycardia 86, 87
sinus tachycardia 100
sirenomelia 120, 135, 250, 280, 342–3
situs inversus 96
skeletal malformations 185, 320
see also named conditions
skin
edema 286, 297, 303, 311
hamartoma 278
skull 4
cloverleaf 175, 237, 244
osteogenesis imperfecta 161
premature synostosis 48
thanatophoric dysplasia 175
tower-shaped 236, 244
small bowel 110–11, 113
368