ultrasound diagnosis of fatal anomalies

INDEX
1
2
3
4
5
hygroma colli 62, 63, 64–5, 66, 194
Fryns syndrome 246, 247
multiple pterygium syndrome 260
trisomy 13 63, 188
trisomy 18 63, 200
trisomy 21 63, 65, 204, 221
Turner syndrome 63, 211, 212, 214, 228
see also cystic hygroma
hyperinsulinemia of the newborn 318
hypertelorism 179, 180, 187, 215
hyperthermia 24, 36, 51, 59, 151
hyperthyroidism 66
hypochondroplasia 47, 148, 156,163
hypoglycemia 315, 318
hypokinesia sequence 154
hypophosphatasia 157
hypospadias 124, 125, 127, 239
hypothyroidism 66
I
IGF2 gene 239
indomethacin 301, 310
infections, congenital 27, 28, 107, 289–97
arthrogryposis multiplex congenita 151
cataract d.d. 47
Dandy–Walker syndrome 34
encephalocele 36
fetal hydrops 286
holoprosencephaly 39
hydramnios 298
hydranencephaly 42
hydrocephalus internus 43
intracranial bleeding 46
microcephaly 48
triploidy d.d. 180
see also TORCH
inferior vena cava 9
iniencephaly 36, 45–6
intersexuality 124
intestines 6, 110–11, 113
see also bowel
intra-abdominal calcification 114, 115, 116, 117
intracardiac fibroma 100
intracranial bleeding 46–7
intracranial calcification 48, 56, 292
cytomegalovirus 293, 294, 295
intrauterine death 20
intrauterine growth restriction 20, 148, 316–17
anticonvulsive drugs 319
Cornelia de Lange syndrome 243, 316
diabetes mellitus 318
gastroschisis 113
intestinal atresia and stenosis association
110
Jacobsen syndrome 179, 316
Miller–Diecker syndrome 258, 316
Neu–Laxova syndrome 265, 316
Noonan syndrome 265
Pallister–Killian syndrome 179
Pena–Shokeir syndrome 267
rhesus incompatibility 287
Russell–Silver syndrome 272, 316
Shprintzen syndrome 273
Smith–Lemli–Optitz syndrome 274, 316
triploidy 180, 181, 316
trisomy 9 186, 316
trisomy 10 187, 316
trisomy 13 188
trisomy 18 193–4, 316
trisomy 21 205
twins 311, 314
varicella 290
Wolf–Hirschhorn syndrome 215, 316
iris coloboma 215, 241
Ivemarksyndrome 82, 250, 336–7
J
Jacobsen syndrome 179, 217, 225, 258, 316,
348–9
Jarcho–Levin syndrome 263, 280, 336–7
joint contractures 179, 260, 267
joint dislocation, congenital 253, 254
Joubert syndrome 34, 163, 228, 336–7
Apert syndrome d.d. 237
Dandy–Walker syndrome association 220
Meckel–Gruber syndrome d.d. 256
Noonan syndrome d.d. 266
Smith–Lemli–Optitz syndrome d.d. 274
Turner syndrome d.d. 211
K
keyhole phenomenon 145, 146
kidneys 6, 7, 8, 15
calcification 138, 141
echogenic 223, 239, 257
hamartoma 278
see also renal entries
Klippel–Feil association 96, 248, 263, 336–7
Klippel–Trenaunay–Weber syndrome 150,
251–2, 336–7
knee deformities 155, 254
Kniest syndrome 47, 211, 336–7
achondroplasia d.d. 148
Fryns syndrome d.d. 246
Noonan syndrome d.d. 266
KVLQT1 gene 239
kyphoscoliosis 155, 240
L
L1 CAM gene 27
labia, female genital 126
lambda sign 9, 303
laparoschisis 113
large bowel 110–11, 113
Larsen syndrome 154, 155, 253, 254, 336–7
leg anomalies 151, 153, 162, 173–4, 250, 254
lemon sign 43, 51, 54
LEOPARD syndrome 266, 336–7
leptomeninges, maldevelopment 28
limb–body stalkanomaly 91, 150, 240–1
lips 8, 10
lissencephaly 29, 48, 265
see also Miller–Dieker syndrome; Walker–
Warburg syndrome
listeriosis 43
lithium 66, 89
liver 8
calcification 114, 115, 186, 290, 293, 295
cysts131,139
herniation 113
ruptured omphalocele 121
see also hepatosplenomegaly
lung malformation 69, 70, 71, 286
see also pulmonary hypoplasia
lymphangioma 150, 251, 286
M
McKusick–Kaufmann syndrome 129, 138
macrocephaly 39
macrocrania 148
macroglossia 239
macrosomia 239, 311, 315, 318
Maffucci syndrome 251
Majewski syndrome 220, 260, 338–9
mandibulofacial dysostosis 248, 264
Marfan syndrome 47, 239, 253
Marshall–Smith syndrome 239, 318
Meckel–Gruber syndrome 255–6, 257–8,
338–9
corpus callosum agenesis association 30,
255
Dandy–Walker syndrome association 34,
220, 255
echogenic kidneys 223
encephalocele 36, 255, 256, 257
facial dysmorphism 59, 256
hydrocephalus 43, 256
hydrolethalus d.d. 250, 256
infantile polycystic kidney disease 131, 132
Miller–Diecker syndrome d.d. 258
Mohr syndrome d.d. 256, 260
polydactyly 163, 255, 256, 258
Smith–Lemli–Optitz syndrome d.d. 256, 274
trisomy 13 d.d. 189, 256
ventriculomegaly 225
Walker–Warburg syndrome d.d. 282
meconium calcification 106
meconium ileus 110
meconium peritonitis 107, 110, 116, 117, 283,
289
mediastinal obstruction 107
mediastinal shift 8
megacolon 89
megacystis 130
megacystis–microcolon syndrome 144
megaureter 130
meiotic nondisjunction 205, 211
meningocele 48, 51, 52–5, 56
mesenteric cysts 139
metatrophic dysplasia 225, 338–9
methotrexate 59, 270
methylene blue 110
metronidazole 59
microcephaly 48–9, 50
anticonvulsive drugs 319
Cornelia de Lange syndrome 243
corpus callosum agenesis association 29
cytomegalovirus 293
diabetes mellitus 318
encephalocele 37, 38, 49
fetal alcohol syndrome 320
holoprosencephaly association 39, 48
hypoplasia of left heart association 96
Jacobsen syndrome 179
Meckel–Gruber syndrome 255
Miller–Diecker syndrome 258
Neu–Laxova syndrome 265
Pallister–Killian syndrome 179
Smith–Lemli–Optitz syndrome 273, 274
trisomy 9 186
366