01.10.2020 Views

ultrasound diagnosis of fatal anomalies

Create successful ePaper yourself

Turn your PDF publications into a flip-book with our unique Google optimized e-Paper software.

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

Hooray! Your file is uploaded and ready to be published.

Saved successfully!

Ooh no, something went wrong!