Congenital malformations - Edocr

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Index Page numbers followed by f or t indicate figures or tables, respectively. A Aarskog syndrome, 238t Abdominal wall defects. See Gastroschisis; Omphalocele Achondrogenesis, 311t, 358t. See also Skeletal dysplasias Achondroplasia, 63t, 314t, 358t. See also Skeletal dysplasias Acrocallosal syndrome, 46t, 79t Acrochordon, 342 Acromelia, 315 Adams-Oliver syndrome, 161t, 201t, 303t ADPKD. See Autosomal dominant polycystic kidney disease Adrenal hyperplasia, nonclassical, 31t Agenesis of corpus callosum, 77–81 associated malformations and syndromes, 78–81, 79–80t, 80t clinical presentation, 78 epidemiology, 77 etiology, 77–78 evaluation, 80f, 81 genetic counseling, 81 management and prognosis, 81 Aicardi syndrome, 79t Alagille syndrome, 185t, 195, 195t Alcohol embryopathy. See Fetal alcohol syndrome Amniocentesis, 32, 35f Amniotic band syndrome, 46t, 55t, 63t Androgen embryopathy, 7t Anencephaly, 51–52 associated malformations and syndromes, 46t, 51, 52t embryology, 43f, 51 epidemiology, 51 etiology, 51 evaluation, 52 genetic counseling, 48–49 prenatal diagnosis, 48 treatment, 52 Angiotensin-converting enzyme (ACE) inhibitors embryopathy, 7t Anophthalmia, encephalocele and, 54t Anorectal malformations, 227–232 associated malformations and syndromes, 228–230, 229t classification, 227, 228t clinical presentation, 228 embryology, 228 epidemiology, 227 etiology, 228 evaluation, 230 genetic counseling, 232 management and prognosis, 230–232 Anotia, 52t, 111. See also Ear anomalies Anticoagulant embryopathy, 7t Antley-Bixler syndrome, 85t, 324t Aortic valve defects associated syndromes, 202 clinical presentation, 199–200 treatment and prognosis, 202, 203 Apert syndrome clinical features, 55t, 73t, 84t, 220t, 296t craniosynostosis syndromes in, 84t etiology, 55t, 73t, 220t, 296t syndactyly in, 294 Aplasia, 8 Aplasia cutis, 342 ARPKD. See Autosomal recessive polycystic kidney disease Arthrogryposis, 321–329 associated malformations and syndromes, 323, 324t classification, 326–327t clinical features, 322–323, 326–327t distal, 325, 326–327t embryology, 321–322 epidemiology, 321 etiology and pathogenesis, 322, 322t evaluation, 325, 328 genetic counseling, 328–329 management and prognosis, 328 Arthrogryposis multiplex congenita, 323–325 Ashkenazi Jewish population, 29, 30t Asphyxiating thoracic dystrophy (Jeune syndrome), 272t, 311t Asplenia syndrome, 176t, 206, 206t Association, 9 Asymmetric crying facies, 105–107, 106f associated malformations and syndromes, 106 etiology, 105 evaluation, 106–107 genetic counseling, 107 incidence, 105 prognosis, 107 379 Copyright © 2008 by The McGraw-Hill Companies, Inc. Click here for terms of use.
380 INDEX Atrial septal defect associated malformations and syndromes, 174–177t diagnosis, 173 etiology, 173, 177 genetic counseling, 177 incidence, 173 treatment and prognosis, 177 Atrioventricular septal defect, 180–181 associated malformations and syndromes, 174–177t diagnosis, 180 etiology, 180 genetic counseling, 181 incidence, 180 treatment and prognosis, 180–181 Autosomal dominant disorders, genetic counseling, 23, 23f Autosomal dominant polycystic kidney disease (ADPKD) clinical presentation, 267t, 269t epidemiology, 265 evaluation, 273–274, 273f genetic counseling, 275 management and prognosis, 274 Autosomal recessive disorders, genetic counseling, 23–25, 24f Autosomal recessive polycystic kidney disease (ARPKD) clinical presentation, 267t, 269t epidemiology, 265 evaluation, 273–274, 273f genetic counseling, 275 management and prognosis, 274 B Baller-Gerold syndrome, 85t Banana sign, 45f Bannayan-Riley-Ruvalcaba syndrome, 349t, 352t Bardet-Biedl syndrome, 238t, 272t, 289t Barth syndrome, 209–210, 211t Beals syndrome, 327t. See also Arthrogryposis Beare-Stevenson syndrome, 73t, 84t Beckwith-Wiedemann syndrome clinical features, 154t, 211t, 244t, 349t, 350t etiology, 244t, 350t hypoglycemia in, 243 inheritance pattern, 154t, 211t management, 351 neoplasm risk in, 351–353, 352t prognosis, 351 Bicuspid aortic valve, 199, 203 Birth defects. See Congenital malformations Bloom syndrome, 30t Bochdalek hernia, 151. See also Congenital diaphragmatic hernia Brachmann-de Lange syndrome, 154t Branchio-oto-renal (BOR) syndrome, 113–114, 257t, 272t Brushfield spots, 15f C 3 C syndrome, 68t, 174t Camptomelia, Cumming type, 167t Camptomelic dysplasia, 311t. See also Skeletal dysplasias Canavan disease, 30t Cardiac-limb syndrome. See Holt-Oram syndrome Cardio-facio-cutaneous (CFC) syndrome, 195t, 211t Cardiomyopathy, 209–213 associated genetic disorders, 211t, 212f clinical presentation, 209–210, 210f diagnosis, 212 epidemiology, 209 etiology, 209–210 evaluation, 212–213 familial hypertrophic, 210, 212f treatment, 213 Cardiovascular malformations. See also specific malformations anencephaly and, 52t anorectal malformations and, 229t CHARGE syndrome and, 118t congenital diaphragmatic hernia and, 155t duodenal atresia and, 224t encephalocele and, 54t esophageal atresia/tracheoesophageal fistula and, 219t Hirschsprung disease and, 237t incidence, 4t omphalocele and, 243t polydactyly and, 288t prenatal diagnosis, 36 renal agenesis and, 255, 255t renal cystic disease and, 271t single umbilical artery and, 335t Carnitine uptake defect, 211t Carpenter syndrome, 85t, 244t, 289t, 296t Carrier screening, 28–29 Cartilage-hair hypoplasia syndrome, 220t, 238t Cat-eye syndrome, 185t Caudal regression syndrome, 231t, 257t, 279t CCAM. See Congenital cystic adenomatoid malformations CDAGS, 231t CDG (congenital disorders of glycosylation) syndromes, 211t Cenani-Lenz syndrome, 294 Central nervous system malformations. See also specific malformations anorectal malformations and, 229t congenital diaphragmatic hernia and, 155t esophageal atresia/tracheoesophageal fistula and, 219t Hirschsprung disease and, 237t incidence, 4t omphalocele and, 243t
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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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Page 348 and 349: 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 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 398 and 399: INDEX 381 polydactyly and, 288t ren
Page 400 and 401: INDEX 383 genetic counseling, 225 m
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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