Congenital malformations - Edocr

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CHAPTER 29 RIGHT VENTRICULAR OUTFLOW TRACT OBSTRUCTIVE DEFECTS 197 3. Jongmans M, Sistermans EA, Rikken A, et al. Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. Am J Med Genet. 2005;A134:165–70. 4. Schubbert S, Zenker M, Rowe SL, et al. Germline KRAS mutations cause Noonan syndrome. Nat Genet. 2006;38:331–6.
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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
Page 164 and 165: Chapter 23 Congenital Cystic Adenom
Page 166 and 167: CHAPTER 23 CONGENITAL CYSTIC ADENOM
Page 168 and 169: Chapter 24 Congenital Diaphragmatic
Page 170 and 171: CHAPTER 24 CONGENITAL DIAPHRAGMATIC
Page 176 and 177: Chapter 25 Congenital Hydrothorax S
Page 178 and 179: CHAPTER 25 CONGENITAL HYDROTHORAX 1
Page 180 and 181: CHAPTER 25 CONGENITAL HYDROTHORAX 1
Page 182 and 183: Chapter 26 Congenital Pulmonary Lym
Page 184 and 185: CHAPTER 26 CONGENITAL PULMONARY LYM
Page 186 and 187: CHAPTER 26 CONGENITAL PULMONARY LYM
Page 188 and 189: Part V Cardiac Malformations Copyri
Page 190 and 191: Chapter 27 Septal Defects BARBARA K
Page 192 and 193: CHAPTER 27 SEPTAL DEFECTS 175 TABL
Page 194 and 195: CHAPTER 27 SEPTAL DEFECTS 177 TABL
Page 196 and 197: CHAPTER 27 SEPTAL DEFECTS 179 to ri
Page 198 and 199: CHAPTER 27 SEPTAL DEFECTS 181 of th
Page 200 and 201: Chapter 28 Conotruncal Heart Defect
Page 202 and 203: CHAPTER 28 CONOTRUNCAL HEART DEFECT
Page 210 and 211: Chapter 29 Right Ventricular Outflo
Page 212 and 213: CHAPTER 29 RIGHT VENTRICULAR OUTFLO
Page 216 and 217: Chapter 30 Left Ventricular Outflow
Page 218 and 219: CHAPTER 30 LEFT VENTRICULAR OUTFLOW
Page 220 and 221: CHAPTER 30 LEFT VENTRICULAR OUTFLOW
Page 222 and 223: Chapter 31 Dextrocardia BARBARA K.
Page 224 and 225: CHAPTER 31 DEXTROCARDIA 207 with fu
Page 226 and 227: Chapter 32 Cardiomyopathy BARBARA K
Page 228 and 229: CHAPTER 32 CARDIOMYOPATHY 211 TABL
Page 230 and 231: CHAPTER 32 CARDIOMYOPATHY 213 of di
Page 232 and 233: Part 6 Gastrointestinal Malformatio
Page 234 and 235: Chapter 33 Esophageal Atresia and T
Page 236 and 237: CHAPTER 33 ESOPHAGEAL ATRESIA AND T
Page 238 and 239: CHAPTER 33 ESOPHAGEAL ATRESIA AND T
Page 240 and 241: Chapter 34 Duodenal Atresia PRAVEEN
Page 242 and 243: CHAPTER 34 DUODENAL ATRESIA 225 TA
Page 244 and 245: Chapter 35 Anorectal Malformations
Page 246 and 247: CHAPTER 35 ANORECTAL MALFORMATIONS
Page 248 and 249: CHAPTER 35 ANORECTAL MALFORMATIONS
Page 250 and 251: Chapter 36 Hirschsprung Disease PRA
Page 252 and 253: CHAPTER 36 HIRSCHSPRUNG DISEASE 235
Page 258 and 259: Chapter 37 Omphalocele PRAVEEN KUMA
Page 260 and 261: CHAPTER 37 OMPHALOCELE 243 TABLE 3
Page 262 and 263: 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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Chapter 48 Single Umbilical Artery
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CHAPTER 48 SINGLE UMBILICAL ARTERY
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CHAPTER 48 SINGLE UMBILICAL ARTERY
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Chapter 49 Sacral Dimple and Other
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CHAPTER 49 SACRAL DIMPLE AND OTHER
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Chapter 50 Hemihyperplasia and Over
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CHAPTER 50 HEMIHYPERPLASIA AND OVER
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Chapter 51 Cystic Hygroma PRAVEEN K
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CHAPTER 51 CYSTIC HYGROMA 357 in la
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Trisomy 18 IUGR, low-set malformed
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CHAPTER 51 CYSTIC HYGROMA 361 and o
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Glossary of Genetic Terms A Acquire
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GLOSSARY OF GENETIC TERMS 365 Codon
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GLOSSARY OF GENETIC TERMS 367 Gene
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GLOSSARY OF GENETIC TERMS 369 Locus
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GLOSSARY OF GENETIC TERMS 371 Prena
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GLOSSARY OF GENETIC TERMS 373 X X c
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Web Resources General Birth Defect
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WEB RESOURCES 377 Children’s Brit
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Index Page numbers followed by f or
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INDEX 381 polydactyly and, 288t ren
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INDEX 383 genetic counseling, 225 m
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INDEX 385 Haddad syndrome, 238t Hai
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INDEX 387 Neurofibromatosis type I,
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INDEX 389 clinical presentation, 30
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