Congenital malformations - Edocr
Congenital malformations - Edocr
Congenital malformations - Edocr
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386 INDEX<br />
Limb reduction defects (Cont.):<br />
associated <strong>malformations</strong> and<br />
syndromes, 301–302, 302t,<br />
303t<br />
classification, 299–300<br />
clinical presentation, 301<br />
embryology, 301<br />
encephalocele and, 54t<br />
epidemiology, 300<br />
etiology, 300–301<br />
evaluation, 302–304<br />
genetic counseling, 304<br />
management and prognosis,<br />
304<br />
Lipoma, sacral, 341, 341f, 342f<br />
Long chain fatty acid oxidation<br />
disorders, 211t<br />
Long QT syndrome, syndactyly<br />
and, 295<br />
Lowe syndrome, 127, 130t<br />
Lymphedema/cerebral<br />
arteriovenous anomaly, 167t<br />
Lymphedema/hypoparathyroidism<br />
anomaly, 167t<br />
Lyon hypothesis, 25<br />
M<br />
Macrocephaly-cutis marmorata<br />
syndrome, 352t<br />
Magnetic resonance imaging<br />
(MRI)<br />
in agenesis of corpus callosum,<br />
78, 80f<br />
in Chiari malformation, 72f<br />
in Dandy-Walker malformation,<br />
68, 69f<br />
in neural tube defects, 44<br />
for prenatal diagnosis, 36<br />
Malformation, 7–8<br />
Marden-Walker syndrome, 324t<br />
Marshall-Smith syndrome, 349t,<br />
352t<br />
MASA syndrome, 61, 63t<br />
Maternal diabetes embryopathy<br />
cardiac lesions, 177t, 185t, 210<br />
clinical features, 7t, 46t, 177t,<br />
185t, 225t<br />
etiology, 177t<br />
holoprosencephaly, 57<br />
neural tube defects, 42<br />
Maternal PKU syndrome<br />
cardiac lesions, 177t, 185t, 201t<br />
clinical features, 7t, 177t, 185t,<br />
201t<br />
etiology, 177t, 201t<br />
Maternal serum alpha-fetoprotein<br />
(MSAFP)<br />
in gastroschisis, 249<br />
in neural tube defects, 48<br />
McCune-Albright syndrome, 350t<br />
MCDK. See Multicystic dysplastic<br />
kidney<br />
McKusick-Kaufman syndrome,<br />
175t<br />
Meckel-Gruber syndrome, 54,<br />
55t, 144, 244t, 336t<br />
Meningocele, 44–45, 45f<br />
Mental retardation, in CHARGE<br />
syndrome, 118t<br />
Mesomelia, 315<br />
Metaphyseal dysplasia, 220t, 238t<br />
Micrognathia, 101–103, 102f<br />
associated anomalies and<br />
syndromes, 101–102<br />
embryology, 101<br />
etiology, 101<br />
evaluation, 102<br />
genetic counseling, 103<br />
management and prognosis,<br />
102–103, 103f<br />
Microphthalmia, 54t, 63t<br />
Microtia. See also Ear anomalies<br />
anencephaly and, 52t<br />
clinical presentation, 111, 113f<br />
etiology, 111<br />
Miller-Dieker syndrome, 79t<br />
Mitochondrial disorders, 26–27, 27f<br />
Mitochondrial respiratory chain<br />
defects, 211t<br />
Mitral stenosis, 199, 202<br />
Mohr syndrome. See Oral-facialdigital<br />
syndrome<br />
Molecular testing, 16–18<br />
Morgagni hernia, 151. See also<br />
<strong>Congenital</strong> diaphragmatic<br />
hernia<br />
Mowat-Wilson syndrome, 79t,<br />
238t<br />
MRI. See Magnetic resonance<br />
imaging<br />
Mucolipidosis IV, 30t<br />
Mucopolysaccharidoses, 211t<br />
Muenke syndrome, 84t<br />
Multicystic dysplastic kidney<br />
(MCDK)<br />
clinical presentation, 267t, 269t<br />
epidemiology, 265<br />
evaluation, 273–274, 273f<br />
genetic counseling, 274–275<br />
management and prognosis,<br />
274<br />
Multiple endocrine neoplasia<br />
type 2, 238t<br />
Multiple lentigines syndrome.<br />
See LEOPARD syndrome<br />
MURCS association, 55t, 257t,<br />
303t<br />
Musculoskeletal <strong>malformations</strong>.<br />
See also specific<br />
<strong>malformations</strong><br />
anorectal <strong>malformations</strong> and,<br />
229t<br />
esophageal<br />
atresia/tracheoesophageal<br />
fistula and, 219t<br />
renal cystic disease and, 271t<br />
single umbilical artery and,<br />
335t<br />
Myelomeningocele<br />
associated <strong>malformations</strong> and<br />
syndromes, 45, 45t, 46t<br />
clinical presentation, 44<br />
evaluation, 44–45, 45f<br />
genetic counseling, 48–49<br />
management and prognosis,<br />
45–47<br />
N<br />
Nager syndrome, 102, 238t, 303t<br />
Neu-Laxova syndrome, 79t<br />
Neural tube defects. See also<br />
Anencephaly;<br />
Myelomeningocele<br />
associated <strong>malformations</strong> and<br />
syndromes, 45, 45t, 46t<br />
embryology, 42–43, 43f<br />
epidemiology, 41–42<br />
genetic counseling, 48–49<br />
prenatal diagnosis, 29, 31, 48<br />
Neurofibromatosis, 350t
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