Congenital malformations - Edocr

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INDEX 383 genetic counseling, 225 management and prognosis, 225 Dysplasia, 8–9 Dyssegmental dysplasia (Silverman-Handmaker syndrome), 55t E Ear anomalies, 111–115 associated malformations and syndromes, 112–114, 114t in CHARGE syndrome, 118, 118f, 118t clinical presentation, 112f, 113f, 115f embryology, 111–112 epidemiology, 111 etiology, 111 evaluation, 114, 115f, 116f genetic counseling, 115 management and prognosis, 114 microtia, 113f preauricular pit, 15f, 112f preauricular tag, 112f Ebstein anomaly associated syndromes, 194 clinical presentation, 193 prognosis, 196 recurrence risk, 196t Echocardiography, fetal, 36 Ectodermal dysplasias, cleft lip/palate in, 94–95 Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome, 257t, 296t, 303t Edwards syndrome. See Trisomy 18 Elejalde syndrome, 349t Ellis-van Creveld syndrome cardiac lesions, 175t clinical features, 145t, 175t, 257t, 289t, 313t etiology, 175t, 257t, 289t, 313t inheritance, 145t recurrence risk, 313t Encephalocele, 53–55 associated malformations and syndromes, 54, 54t, 55t clinical presentation, 53 embryology, 53f epidemiology, 53t evaluation, 53–54 genetic counseling, 54 management and prognosis, 54 Epidermal nevus, 350t Esophageal atresia/tracheoesophageal fistula, 217–221 associated malformations and syndromes, 218–219, 219t, 220t clinical presentation, 218 embryology, 217–218 epidemiology, 217 etiology, 217 evaluation, 219–221 genetic counseling, 221 management and prognosis, 221 variations, 217, 218f Ex utero intrapartum treatment (EXIT) procedure for congenital diaphragmatic hernia, 155 for congenital high airway obstruction syndrome, 137 Expressivity, 28 F Facial asymmetry asymmetric crying facies, 105–107, 105f oculo-auriculo-vertebral syndrome, 107–109, 107f Factor XI deficiency, 30t Familial dysautonomia, 30t Fanconi anemia type C, 30t Fanconi pancytopenia syndrome clinical features, 220t, 225t, 263t, 289t, 303t etiology, 225t, 263t evaluation, 221 inheritance, 220t polydactyly and, 288 Faun tail hypertrichosis, 341, 341f Feingold syndrome (oculoduodeno-esophagealdigital syndrome), 220t, 225t Fetal akinesia deformation sequence. See Arthrogryposis Fetal alcohol syndrome cardiac lesions, 177t, 185t clinical features, 7t, 79t, 177t, 185t, 324t etiology, 177t Fetal nuchal translucency, 31–32 Fetal surgery for congenital diaphragmatic hernia, 155 for congenital high airway obstruction syndrome, 137 for hypoplastic left heart syndrome, 203 Fetal trimethadione syndrome, 185t FG syndrome, 73t, 79t, 324t Fibrochondrogenesis, 244t Fluorescence in-situ hybridization (FISH), 16, 17f Folic acid deficiency, neural tube defects and, 42 Fraser syndrome, 55t, 136, 296t Freeman-Sheldon syndrome, 326t. See also Arthrogryposis Frontonasal dysplasia, 55t Fryns syndrome cardiac lesions, 175t clinical features, 79t, 154t, 175t, 238t, 244t, 272t, 358t etiology, 244t inheritance, 79t G Galactosemia, congenital cataracts in, 128 Gastrointestinal malformations. See also specific malformations anencephaly and, 52t anorectal malformations and other, 229t congenital diaphragmatic hernia and other, 155t Hirschsprung disease and other, 237t polydactyly and, 288t
384 INDEX Gastrointestinal malformations (Cont.): renal agenesis and, 255t renal cystic disease and, 271t single umbilical artery and, 335t Gastroschisis, 247–250 associated malformations and syndromes, 249 clinical presentation, 248, 248f embryology, 247–248 epidemiology, 247 etiology, 247 evaluation, 249 genetic counseling, 250 management and prognosis, 249–250 vs. omphalocele, 249t Gaucher disease type I, 30t GCKD (glomerulocystic kidney disease), 268t, 269t Genetic counseling definition, 21 prenatal diagnosis amniocentesis, 32, 35f chorionic villus sampling, 32–33, 35f chromosome analysis, 32, 33f, 34f cordocentesis, 33–34 imaging, 34, 36 preimplantation genetic diagnosis, 36–37 principles and practices, 21 risk assessment autosomal dominant disorders, 23, 23f autosomal recessive disorders, 23–25, 24f complex disorders, 27–28 mitochondrial disorders, 26–27, 27f penetrance and expressivity, 28 sex-linked disorders, 25–26, 25f, 26f in unknown diagnosis, 28 screening carrier, 28–29 fetal, 29–32 in specific disorders agenesis of corpus callosum, 81 anencephaly, 48–49 anorectal malformations, 232 arthrogryposis, 328–329 asymmetric crying facies, 107 choanal atresia, 119–120 cleft lip/palate, 98–99, 99t coloboma, 124 congenital cataract, 130 congenital cystic adenomatoid malformations, 149 congenital diaphragmatic hernia, 157 congenital high airway obstruction syndrome, 137 congenital hydrothorax, 163 congenital pulmonary lymphangiectasia, 168 conotruncal defects, 186, 188, 190–191 craniosynostosis, 88 cystic hygroma, 361 Dandy-Walker malformation, 70 dextrocardia, 207 duodenal atresia, 225 encephalocele, 54 esophageal atresia/tracheoesophageal fistula, 221 gastroschisis, 250 Hirschsprung disease, 237, 239t holoprosencephaly, 59–60 horseshoe kidney, 264 hydrocephalus, 64–65, 65t left ventricular outflow tract obstructive defects, 203 limb reduction defects, 304 micrognathia, 103 neural tube defects, 48–49 occult spinal dysraphism, 344 oculo-auriculo-vertebral syndrome, 108 omphalocele, 245 overgrowth syndromes, 353 polydactyly, 290 pulmonary agenesis, 141 pulmonary hypoplasia, 146 renal agenesis, 258–259 renal cystic diseases, 274–275 right ventricular outflow tract obstructive defects, 196, 196t septal defects, 177, 179–180, 181 skeletal dysplasias, 320 syndactyly, 295 Genitourinary malformations. See also specific malformations anorectal malformations and, 229t CHARGE syndrome and, 118t congenital diaphragmatic hernia and, 155t esophageal atresia/tracheoesophageal fistula and, 219t Hirschsprung disease and, 237t omphalocele and, 243t polydactyly and, 288t renal agenesis and, 255, 255t renal cystic disease and, 271t single umbilical artery and, 335t Gerbe syndrome, 303t German syndrome, 167t Glomerulocystic kidney disease (GCKD), 268t, 269t Goldenhar syndrome, 176t, 186t, 257t Goltz syndrome, 263t, 296t, 303t Gordon syndrome, 326t. See also Arthrogryposis Gorlin-Chaudhry-Moss syndrome, 85t Greig cephalopolysyndactyly syndrome, 289t, 296t Growth retardation, in CHARGE syndrome, 118t H H-type fistula, 217. See also Esophageal atresia/tracheoesophageal fistula
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CONGENITAL MALFORMATIONS
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CONGENITAL MALFORMATIONS Evidence-B
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We dedicate this book to all infant
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For more information about this tit
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CONTENTS ix 23. Congenital Cystic A
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CONTENTS xi Part IX Miscellaneous M
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Contributors Brad Angle, MD Associa
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Preface Based on a World Health Org
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Part I General Considerations Copyr
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Chapter 1 Dysmorphology PRAVEEN KUM
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CHAPTER 1 DYSMORPHOLOGY 5 Almost 15
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CHAPTER 1 DYSMORPHOLOGY 7 TABLE 1-
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CHAPTER 1 DYSMORPHOLOGY 9 malformat
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CHAPTER 1 DYSMORPHOLOGY 11 examples
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Chapter 2 Assessment of an Infant w
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CHAPTER 2 ASSESSMENT OF AN INFANT W
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Chapter 3 Genetic Counseling: Princ
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CHAPTER 3 GENETIC COUNSELING: PRINC
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Part II Central Nervous System Malf
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Chapter 4 Spina Bifida BARBARA K. B
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CHAPTER 4 SPINA BIFIDA 43 (Fig. 4-1
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CHAPTER 4 SPINA BIFIDA 45 TABLE 4-
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CHAPTER 4 SPINA BIFIDA 47 function,
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CHAPTER 4 SPINA BIFIDA 49 of the pr
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Chapter 5 Anencephaly BARBARA K. BU
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Chapter 6 Encephalocele BARBARA K.
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CHAPTER 6 ENCEPHALOCELE 55 TABLE 6
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Chapter 7 Holoprosencephaly BARBARA
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CHAPTER 7 HOLOPROSENCEPHALY 59 EVA
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Chapter 8 Hydrocephalus BARBARA K.
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CHAPTER 8 HYDROCEPHALUS 63 TABLE 8
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CHAPTER 8 HYDROCEPHALUS 65 TABLE 8
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Chapter 9 Dandy-Walker Malformation
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CHAPTER 9 DANDY-WALKER MALFORMATION
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Chapter 10 Chiari Malformations BAR
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CHAPTER 10 CHIARI MALFORMATIONS 73
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CHAPTER 10 CHIARI MALFORMATIONS 75
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Chapter 11 Agenesis of the Corpus C
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CHAPTER 11 AGENESIS OF THE CORPUS C
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CHAPTER 11 AGENESIS OF THE CORPUS C
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Chapter 12 Craniosynostosis BARBARA
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CHAPTER 12 CRANIOSYNOSTOSIS 85 As a
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CHAPTER 12 CRANIOSYNOSTOSIS 87 cran
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CHAPTER 12 CRANIOSYNOSTOSIS 89 REFE
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Part III Craniofacial Malformations
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Chapter 13 Cleft Lip and Palate BRA
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CHAPTER 13 CLEFT LIP AND PALATE 95
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Chapter 14 Micrognathia BRAD ANGLE
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CHAPTER 14 MICROGNATHIA 103 Microgn
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Chapter 15 Congenital Anomalies Ass
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CHAPTER 15 CONGENITAL ANOMALIES ASS
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CHAPTER 15 CONGENITAL ANOMALIES ASS
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Chapter 16 Ear Anomalies BRAD ANGLE
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CHAPTER 16 EAR ANOMALIES 113 Figure
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CHAPTER 16 EAR ANOMALIES 115 Figure
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Chapter 17 Choanal Atresia BRAD ANG
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CHAPTER 17 CHOANAL ATRESIA 119 been
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Chapter 18 Coloboma BRAD ANGLE INT
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CHAPTER 18 COLOBOMA 123 typically a
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Chapter 19 Cataract BRAD ANGLE INT
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CHAPTER 19 CATARACT 127 Isolated Ca
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CHAPTER 19 CATARACT 129 associated
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CHAPTER 19 CATARACT 131 2. Zetterst
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Part IV Respiratory Malformations C
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Chapter 20 Congenital High Airway O
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CHAPTER 20 CONGENITAL HIGH AIRWAY O
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Chapter 21 Pulmonary Agenesis SANDR
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CHAPTER 21 PULMONARY AGENESIS 141 k
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Chapter 22 Pulmonary Hypoplasia SAN
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CHAPTER 22 PULMONARY HYPOPLASIA 145
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Chapter 23 Congenital Cystic Adenom
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CHAPTER 23 CONGENITAL CYSTIC ADENOM
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Chapter 24 Congenital Diaphragmatic
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CHAPTER 24 CONGENITAL DIAPHRAGMATIC
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Chapter 25 Congenital Hydrothorax S
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CHAPTER 25 CONGENITAL HYDROTHORAX 1
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CHAPTER 25 CONGENITAL HYDROTHORAX 1
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Chapter 26 Congenital Pulmonary Lym
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CHAPTER 26 CONGENITAL PULMONARY LYM
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CHAPTER 26 CONGENITAL PULMONARY LYM
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Part V Cardiac Malformations Copyri
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Chapter 27 Septal Defects BARBARA K
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CHAPTER 27 SEPTAL DEFECTS 175 TABL
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CHAPTER 27 SEPTAL DEFECTS 177 TABL
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CHAPTER 27 SEPTAL DEFECTS 179 to ri
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CHAPTER 27 SEPTAL DEFECTS 181 of th
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Chapter 28 Conotruncal Heart Defect
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CHAPTER 28 CONOTRUNCAL HEART DEFECT
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Chapter 29 Right Ventricular Outflo
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CHAPTER 29 RIGHT VENTRICULAR OUTFLO
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CHAPTER 29 RIGHT VENTRICULAR OUTFLO
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Chapter 30 Left Ventricular Outflow
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CHAPTER 30 LEFT VENTRICULAR OUTFLOW
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CHAPTER 30 LEFT VENTRICULAR OUTFLOW
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Chapter 31 Dextrocardia BARBARA K.
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CHAPTER 31 DEXTROCARDIA 207 with fu
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Chapter 32 Cardiomyopathy BARBARA K
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CHAPTER 32 CARDIOMYOPATHY 211 TABL
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CHAPTER 32 CARDIOMYOPATHY 213 of di
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Part 6 Gastrointestinal Malformatio
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Chapter 33 Esophageal Atresia and T
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CHAPTER 33 ESOPHAGEAL ATRESIA AND T
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CHAPTER 33 ESOPHAGEAL ATRESIA AND T
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Chapter 34 Duodenal Atresia PRAVEEN
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CHAPTER 34 DUODENAL ATRESIA 225 TA
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Chapter 35 Anorectal Malformations
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CHAPTER 35 ANORECTAL MALFORMATIONS
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CHAPTER 35 ANORECTAL MALFORMATIONS
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Chapter 36 Hirschsprung Disease PRA
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CHAPTER 36 HIRSCHSPRUNG DISEASE 235
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Chapter 37 Omphalocele PRAVEEN KUMA
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CHAPTER 37 OMPHALOCELE 243 TABLE 3
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CHAPTER 37 OMPHALOCELE 245 status,
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Chapter 38 Gastroschisis PRAVEEN KU
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CHAPTER 38 GASTROSCHISIS 249 TABLE
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Part VII Renal Malformations Copyri
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Chapter 39 Renal Agenesis PRAVEEN K
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CHAPTER 39 RENAL AGENESIS 255 propo
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CHAPTER 39 RENAL AGENESIS 257 TABL
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CHAPTER 39 RENAL AGENESIS 259 varia
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Chapter 40 Horseshoe Kidney PRAVEEN
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CHAPTER 40 HORSESHOE KIDNEY 263 TA
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Chapter 41 Renal Cystic Diseases PR
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TABLE 41-2 Summary of Clinical Pres
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TABLE 41-2 Summary of Clinical Pres
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CHAPTER 41 RENAL CYSTIC DISEASES 27
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Chapter 42 Posterior Urethral Valve
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CHAPTER 42 POSTERIOR URETHRAL VALVE
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CHAPTER 42 POSTERIOR URETHRAL VALVE
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Part VIII Skeletal Malformations Co
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Chapter 43 Polydactyly PRAVEEN KUMA
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CHAPTER 43 POLYDACTYLY 287 Temtamy
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CHAPTER 43 POLYDACTYLY 289 TABLE 4
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CHAPTER 43 POLYDACTYLY 291 5. Holme
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Chapter 44 Syndactyly PRAVEEN KUMAR
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CHAPTER 44 SYNDACTYLY 295 ASSOCIAT
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CHAPTER 44 SYNDACTYLY 297 REFERENCE
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Chapter 45 Limb Reduction Defects P
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CHAPTER 45 LIMB REDUCTION DEFECTS 3
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TABLE 45-2 Syndromes Associated wit
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CHAPTER 45 LIMB REDUCTION DEFECTS 3
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Chapter 46 Skeletal Dysplasias PRAV
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CHAPTER 46 SKELETAL DYSPLASIAS 309
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311 Achondrogenesis Autosomal Sever
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313 Chondrodysplasia X-linked Short
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Pathological Fractures or Abnormal
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Chapter 47 Arthrogryposis PRAVEEN K
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CHAPTER 47 ARTHROGRYPOSIS 323 in ot
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CHAPTER 47 ARTHROGRYPOSIS 325 obscu
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327 Type 5 Proximal & distal Club f
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CHAPTER 47 ARTHROGRYPOSIS 329 unkno
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Part IX Miscellaneous Malformations
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Page 364 and 365: Chapter 50 Hemihyperplasia and Over
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Page 372 and 373: Chapter 51 Cystic Hygroma PRAVEEN K
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Page 376 and 377: Trisomy 18 IUGR, low-set malformed
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Page 380 and 381: Glossary of Genetic Terms A Acquire
Page 382 and 383: GLOSSARY OF GENETIC TERMS 365 Codon
Page 384 and 385: GLOSSARY OF GENETIC TERMS 367 Gene
Page 386 and 387: GLOSSARY OF GENETIC TERMS 369 Locus
Page 388 and 389: GLOSSARY OF GENETIC TERMS 371 Prena
Page 390 and 391: GLOSSARY OF GENETIC TERMS 373 X X c
Page 392 and 393: Web Resources General Birth Defect
Page 394 and 395: WEB RESOURCES 377 Children’s Brit
Page 396 and 397: Index Page numbers followed by f or
Page 398 and 399: INDEX 381 polydactyly and, 288t ren
Page 402 and 403: INDEX 385 Haddad syndrome, 238t Hai
Page 404 and 405: INDEX 387 Neurofibromatosis type I,
Page 406 and 407: INDEX 389 clinical presentation, 30
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