Congenital malformations - Edocr

More documents

Recommendations

Info

TABLE 41-2 Summary of Clinical Presentation in Common Renal Cystic Diseases in Newborn Associated Age at Renal Function Renal Associated Diagnosis Incidence Family History Presentation at Birth Anomalies Extrarenal Anomalies 267 ADPKD 1–2/1000 Usually present, Adulthood, Variable None None in newborns; live births absent in perinatal cases cysts in liver, spleen, 10–25% are rare, pancreas and lung in of cases
TABLE 41-2 Summary of Clinical Presentation in Common Renal Cystic Diseases in Newborn (Continued) Associated Age at Renal Function Renal Associated Diagnosis Incidence Family History Presentation at Birth Anomalies Extrarenal Anomalies 268 GCKD Rare Usually present Usually infancy, Variable None None can present in perinatal period JNPHP Very rare Variable Variable Variable None 10–20% have Tapetoretinal degeneration; CNS and skeletal anomalies are reported; usually associated with hepatic fibrosis Simple Rare Absent Fetal Usually normal None None renal cysts ADPKD, autosomal dominant polycystic kidney disease; GCKD, glomerulocystic kidney disease; ARPKD, autosomal recessive polycystic kidney disease; JNPHP, juvenile nephronophthisis; PKD, polycystic kidney disease; PKHD, polycystic kidney and hepatic disease; MCDK, multicystic dysplastic kidney; ESRD, end stage renal disease.
Page 2 and 3:
CONGENITAL MALFORMATIONS
Page 4 and 5:
CONGENITAL MALFORMATIONS Evidence-B
Page 6 and 7:
We dedicate this book to all infant
Page 8 and 9:
For more information about this tit
Page 10 and 11:
CONTENTS ix 23. Congenital Cystic A
Page 12 and 13:
CONTENTS xi Part IX Miscellaneous M
Page 14 and 15:
Contributors Brad Angle, MD Associa
Page 16 and 17:
Preface Based on a World Health Org
Page 18 and 19:
Part I General Considerations Copyr
Page 20 and 21:
Chapter 1 Dysmorphology PRAVEEN KUM
Page 22 and 23:
CHAPTER 1 DYSMORPHOLOGY 5 Almost 15
Page 24 and 25:
CHAPTER 1 DYSMORPHOLOGY 7 TABLE 1-
Page 26 and 27:
CHAPTER 1 DYSMORPHOLOGY 9 malformat
Page 28 and 29:
CHAPTER 1 DYSMORPHOLOGY 11 examples
Page 30 and 31:
Chapter 2 Assessment of an Infant w
Page 32 and 33:
CHAPTER 2 ASSESSMENT OF AN INFANT W
Page 34 and 35:
Page 36 and 37:
Page 38 and 39:
Chapter 3 Genetic Counseling: Princ
Page 40 and 41:
CHAPTER 3 GENETIC COUNSELING: PRINC
Page 42 and 43:
Page 44 and 45:
Page 46 and 47:
Page 48 and 49:
Page 50 and 51:
Page 52 and 53:
Page 54 and 55:
Page 56 and 57:
Part II Central Nervous System Malf
Page 58 and 59:
Chapter 4 Spina Bifida BARBARA K. B
Page 60 and 61:
CHAPTER 4 SPINA BIFIDA 43 (Fig. 4-1
Page 62 and 63:
CHAPTER 4 SPINA BIFIDA 45 TABLE 4-
Page 64 and 65:
CHAPTER 4 SPINA BIFIDA 47 function,
Page 66 and 67:
CHAPTER 4 SPINA BIFIDA 49 of the pr
Page 68 and 69:
Chapter 5 Anencephaly BARBARA K. BU
Page 70 and 71:
Chapter 6 Encephalocele BARBARA K.
Page 72 and 73:
CHAPTER 6 ENCEPHALOCELE 55 TABLE 6
Page 74 and 75:
Chapter 7 Holoprosencephaly BARBARA
Page 76 and 77:
CHAPTER 7 HOLOPROSENCEPHALY 59 EVA
Page 78 and 79:
Chapter 8 Hydrocephalus BARBARA K.
Page 80 and 81:
CHAPTER 8 HYDROCEPHALUS 63 TABLE 8
Page 82 and 83:
CHAPTER 8 HYDROCEPHALUS 65 TABLE 8
Page 84 and 85:
Chapter 9 Dandy-Walker Malformation
Page 86 and 87:
CHAPTER 9 DANDY-WALKER MALFORMATION
Page 88 and 89:
Chapter 10 Chiari Malformations BAR
Page 90 and 91:
CHAPTER 10 CHIARI MALFORMATIONS 73
Page 92 and 93:
CHAPTER 10 CHIARI MALFORMATIONS 75
Page 94 and 95:
Chapter 11 Agenesis of the Corpus C
Page 96 and 97:
CHAPTER 11 AGENESIS OF THE CORPUS C
Page 98 and 99:
CHAPTER 11 AGENESIS OF THE CORPUS C
Page 100 and 101:
Chapter 12 Craniosynostosis BARBARA
Page 102 and 103:
CHAPTER 12 CRANIOSYNOSTOSIS 85 As a
Page 104 and 105:
CHAPTER 12 CRANIOSYNOSTOSIS 87 cran
Page 106 and 107:
CHAPTER 12 CRANIOSYNOSTOSIS 89 REFE
Page 108 and 109:
Part III Craniofacial Malformations
Page 110 and 111:
Chapter 13 Cleft Lip and Palate BRA
Page 112 and 113:
CHAPTER 13 CLEFT LIP AND PALATE 95
Page 114 and 115:
Page 116 and 117:
Page 118 and 119:
Chapter 14 Micrognathia BRAD ANGLE
Page 120 and 121:
CHAPTER 14 MICROGNATHIA 103 Microgn
Page 122 and 123:
Chapter 15 Congenital Anomalies Ass
Page 124 and 125:
CHAPTER 15 CONGENITAL ANOMALIES ASS
Page 126 and 127:
CHAPTER 15 CONGENITAL ANOMALIES ASS
Page 128 and 129:
Chapter 16 Ear Anomalies BRAD ANGLE
Page 130 and 131:
CHAPTER 16 EAR ANOMALIES 113 Figure
Page 132 and 133:
CHAPTER 16 EAR ANOMALIES 115 Figure
Page 134 and 135:
Chapter 17 Choanal Atresia BRAD ANG
Page 136 and 137:
CHAPTER 17 CHOANAL ATRESIA 119 been
Page 138 and 139:
Chapter 18 Coloboma BRAD ANGLE INT
Page 140 and 141:
CHAPTER 18 COLOBOMA 123 typically a
Page 142 and 143:
Chapter 19 Cataract BRAD ANGLE INT
Page 144 and 145:
CHAPTER 19 CATARACT 127 Isolated Ca
Page 146 and 147:
CHAPTER 19 CATARACT 129 associated
Page 148 and 149:
CHAPTER 19 CATARACT 131 2. Zetterst
Page 150 and 151:
Part IV Respiratory Malformations C
Page 152 and 153:
Chapter 20 Congenital High Airway O
Page 154 and 155:
CHAPTER 20 CONGENITAL HIGH AIRWAY O
Page 156 and 157:
Chapter 21 Pulmonary Agenesis SANDR
Page 158 and 159:
CHAPTER 21 PULMONARY AGENESIS 141 k
Page 160 and 161:
Chapter 22 Pulmonary Hypoplasia SAN
Page 162 and 163:
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 172 and 173:
Page 174 and 175:
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 204 and 205:
Page 206 and 207:
Page 208 and 209:
Page 210 and 211:
Chapter 29 Right Ventricular Outflo
Page 212 and 213:
CHAPTER 29 RIGHT VENTRICULAR OUTFLO
Page 214 and 215:
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,
Page 264 and 265: Chapter 38 Gastroschisis PRAVEEN KU
Page 266 and 267: CHAPTER 38 GASTROSCHISIS 249 TABLE
Page 268 and 269: Part VII Renal Malformations Copyri
Page 270 and 271: Chapter 39 Renal Agenesis PRAVEEN K
Page 272 and 273: CHAPTER 39 RENAL AGENESIS 255 propo
Page 274 and 275: CHAPTER 39 RENAL AGENESIS 257 TABL
Page 276 and 277: CHAPTER 39 RENAL AGENESIS 259 varia
Page 278 and 279: Chapter 40 Horseshoe Kidney PRAVEEN
Page 280 and 281: CHAPTER 40 HORSESHOE KIDNEY 263 TA
Page 282 and 283: Chapter 41 Renal Cystic Diseases PR
Page 286 and 287: TABLE 41-2 Summary of Clinical Pres
Page 288 and 289: CHAPTER 41 RENAL CYSTIC DISEASES 27
Page 294 and 295: Chapter 42 Posterior Urethral Valve
Page 296 and 297: CHAPTER 42 POSTERIOR URETHRAL VALVE
Page 298 and 299: CHAPTER 42 POSTERIOR URETHRAL VALVE
Page 300 and 301: Part VIII Skeletal Malformations Co
Page 302 and 303: Chapter 43 Polydactyly PRAVEEN KUMA
Page 304 and 305: CHAPTER 43 POLYDACTYLY 287 Temtamy
Page 306 and 307: CHAPTER 43 POLYDACTYLY 289 TABLE 4
Page 308 and 309: CHAPTER 43 POLYDACTYLY 291 5. Holme
Page 310 and 311: Chapter 44 Syndactyly PRAVEEN KUMAR
Page 312 and 313: CHAPTER 44 SYNDACTYLY 295 ASSOCIAT
Page 314 and 315: CHAPTER 44 SYNDACTYLY 297 REFERENCE
Page 316 and 317: Chapter 45 Limb Reduction Defects P
Page 318 and 319: CHAPTER 45 LIMB REDUCTION DEFECTS 3
Page 320 and 321: TABLE 45-2 Syndromes Associated wit
Page 322 and 323: CHAPTER 45 LIMB REDUCTION DEFECTS 3
Page 324 and 325: Chapter 46 Skeletal Dysplasias PRAV
Page 326 and 327: CHAPTER 46 SKELETAL DYSPLASIAS 309
Page 328 and 329: 311 Achondrogenesis Autosomal Sever
Page 330 and 331: 313 Chondrodysplasia X-linked Short
Page 332 and 333: CHAPTER 46 SKELETAL DYSPLASIAS 315
Page 334 and 335:
CHAPTER 46 SKELETAL DYSPLASIAS 317
Page 336 and 337:
Pathological Fractures or Abnormal
Page 338 and 339:
Chapter 47 Arthrogryposis PRAVEEN K
Page 340 and 341:
CHAPTER 47 ARTHROGRYPOSIS 323 in ot
Page 342 and 343:
CHAPTER 47 ARTHROGRYPOSIS 325 obscu
Page 344 and 345:
327 Type 5 Proximal & distal Club f
Page 346 and 347:
CHAPTER 47 ARTHROGRYPOSIS 329 unkno
Page 348 and 349:
Part IX Miscellaneous Malformations
Page 350 and 351:
Chapter 48 Single Umbilical Artery
Page 352 and 353:
CHAPTER 48 SINGLE UMBILICAL ARTERY
Page 354 and 355:
CHAPTER 48 SINGLE UMBILICAL ARTERY
Page 356 and 357:
Chapter 49 Sacral Dimple and Other
Page 358 and 359:
CHAPTER 49 SACRAL DIMPLE AND OTHER
Page 360 and 361:
Page 362 and 363:
Page 364 and 365:
Chapter 50 Hemihyperplasia and Over
Page 366 and 367:
CHAPTER 50 HEMIHYPERPLASIA AND OVER
Page 368 and 369:
Page 370 and 371:
Page 372 and 373:
Chapter 51 Cystic Hygroma PRAVEEN K
Page 374 and 375:
CHAPTER 51 CYSTIC HYGROMA 357 in la
Page 376 and 377:
Trisomy 18 IUGR, low-set malformed
Page 378 and 379:
CHAPTER 51 CYSTIC HYGROMA 361 and o
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 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
show all

Congenital malformations - Edocr

Create successful ePaper yourself

Delete template?

Save as template?