Congenital malformations - Edocr

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INDEX 387 Neurofibromatosis type I, 73t Nevo syndrome, 349t Niemann-Pick disease, 31t Nonclassical adrenal hyperplasia, 31t Nonsyndromic hearing loss, 31t Noonan syndrome cardiac lesions, 175t, 210, 211t clinical features, 63t, 112, 161t, 167t, 175t, 195t, 196f, 210, 358t ear anomalies, 112 etiology, 63t, 161t, 167t, 175t, 195t inheritance pattern, 211t Nuchal translucency, 31–32 O Octreotide, for congenital hydrothorax, 163 Oculo-auriculo-vertebral (OAV) syndrome associated malformations and syndromes, 108 cardiac lesions, 176t clinical features, 107–108, 107f, 176t etiology, 108, 176t evaluation, 108, 108t facial asymmetry, 107f genetic counseling, 108 incidence, 108 prognosis, 108 Oculo-duodeno-esophagealdigital (ODED) syndrome (Feingold syndrome), 220t, 225t Oculodentodigital syndrome, 296t OEIS complex, 231t, 244t, 336t OK-432, for cystic hygroma, 357 Oligohydramnios sequence, 324t Omphalocele, 241–245 associated malformations and syndromes, 242–243, 243t, 244t clinical presentation, 242, 242f embryology, 241–242 epidemiology, 241 etiology, 241 evaluation, 243 vs. gastroschisis, 249t genetic counseling, 245 management and prognosis, 243–245 Opitz C syndrome, 85t Opitz-Frias syndrome, 225t Opitz syndrome, 220t, 231t Oral-facial-digital syndrome (Mohr syndrome) cardiac lesions, 175t clinical features, 175t, 296t etiology, 175t type I, 63t, 95, 272t, 289t type II, 63t Osteochondrodysplasias. See Skeletal dysplasias Osteogenesis imperfecta, 310t. See also Skeletal dysplasias Oto-palatal-digital syndrome, 97 Overgrowth syndromes, 347–353 classification, 347 clinical features, 348–350, 349t epidemiology, 347 etiology, 347–348 evaluation, 351 genetic counseling, 353 management, 351 neoplasm risk in, 351–353, 352t, 353t prognosis, 351 P 4p deletion syndrome (Wolf- Hirschhorn syndrome), 95, 174t Pallister-Hall syndrome, 55t, 201t, 231t, 263t, 289t Patau syndrome. See Trisomy 13 PEHO syndrome, 167t Pena-Shokeir phenotype, 324t Penetrance, 28 Pentalogy of Cantrell, 46t, 242, 244t Perlman syndrome, 154t, 349t, 352t Peters anomaly, 127 Pfeiffer syndrome, 84t, 296t PGD (preimplantation genetic diagnosis), 36–37 PHACE syndrome, 68t, 201t Phenytoin embryopathy, 7t, 93 Pierre Robin syndrome, 96 Plagiocephaly, deformational, vs. craniosynostosis, 87 Poland sequence, 296t, 303t Polycystic kidney disease. See Renal cystic diseases Polydactyly, 285–290 associated malformations and syndromes, 287–288, 288t, 289–290t clinical presentation, 286–287 embryology, 285–286, 286t encephalocele and, 54t epidemiology, 285 evaluation, 288 genetic counseling, 290 management and prognosis, 290 mesoaxial, 287 postaxial, 286–287 preaxial, 287 Polysyndactyly, 294. See also Syndactyly Pompe disease, 210, 210f, 211t Popliteal pterygium syndrome, 324t Porencephaly, 61 Port-wine stain, lumbosacral, 342f Postaxial polydactyly, 286–287, 286t. See also Polydactyly Posterior urethral valves, 277–280 associated malformations and syndromes, 278–279, 279t classification, 277 clinical presentation, 278 embryology, 277–278 epidemiology, 277 evaluation, 279–280 genetic counseling, 280–281 management and prognosis, 280 Potter syndrome, 145t Preauricular pit, 15f, 112f Preaxial polydactyly, 286t, 287. See also Polydactyly Preimplantation genetic diagnosis (PGD), 36–37 Primary carnitine deficiency, 211t Proteus syndrome, 350t, 352t
388 INDEX Proud syndrome, 79t Pseudotail, 343 Pulmonary agenesis, 139–141 associated malformations and syndromes, 140, 140t clinical presentation, 140 embryology, 139–140 epidemiology, 139 etiology, 139 evaluation, 140–141 genetic counseling, 141 management and prognosis, 141 Pulmonary atresia clinical presentation, 194 prognosis, 196 recurrence risk, 196t Pulmonary hypoplasia, 143–146 associated malformations and syndromes, 144, 145t clinical presentation, 144 embryology, 143–144 epidemiology, 143 etiology, 143 evaluation, 145 genetic counseling, 146 management and prognosis, 146 Pulmonary lymphangiectasia, congenital. See Congenital pulmonary lymphangiectasia Pulmonic stenosis associated syndromes, 194–195, 195t clinical presentation, 193–194 prognosis, 196t recurrence risk, 196t Q 22q11 deletion syndrome cardiac lesions, 174t, 184, 185t, 189 cleft palate and, 95–96 clinical features, 73t, 95–96, 96t, 174t, 185t, 190f etiology, 73t, 174t fluorescence in-situ hybridization testing, 16, 17f genetics, 96 Quad screen, 31 R Racial/ethnic considerations, in carrier screening, 28–29, 30t Renal agenesis, 253–259 associated malformations and syndromes, 254–256, 255t, 257t clinical presentation, 254 embryology, 254 epidemiology, 253–254 evaluation and management, 256, 258f, 258t genetic counseling, 258–259 prognosis, 256–258 Renal cystic diseases, 265–275 associated malformations and syndromes, 271, 271t, 272–273t classification, 265, 266t clinical presentation, 266, 267–270t embryology, 266 epidemiology, 265–266 evaluation, 271–274 genetic counseling, 274–275 management and prognosis, 274 Respiratory system malformations anorectal malformations and, 229t esophageal atresia/tracheoesophageal fistula and, 219t single umbilical artery and, 335t Retinoic acid embryopathy, 7t, 185t Rhizomelia, 315 Rieger syndrome, 122, 127 Right ventricular outflow tract obstructive defects, 193–196 associated syndromes, 194–195, 195t clinical presentation, 193–194 genetic counseling, 196, 196t prognosis, 196 Ritscher-Schinzel syndrome, 68t Roberts SC-phocomelia, 55t, 263t, 303t, 324t, 358t Robin sequence, 96 Rubella embryopathy, 7t, 195t Rubinstein-Taybi syndrome, 175t Russell-Silver syndrome, 279t S Sacral dimple, 15f Saethre-Chotzen syndrome, 84t Schinzel syndrome, 46t Scimitar syndrome, 145t Septic-optic dysplasia, 79t Sequence, 9 Setting sun sign, 62 Sex-linked conditions, genetic counseling, 25–26, 25f, 26f Shah-Waardenburg syndrome, 234t Short rib-polydactyly syndrome clinical features, 145t, 311t etiology, 311t inheritance, 145t recurrence risk, 311t type I (Saldino-Noonan type), 272t, 289t, 358t type II (Majewski type), 272t, 289t, 358t Shprintzen-Goldberg syndrome, 85t Silverman-Handmaker syndrome (dyssegmental dysplasia), 55t Simian crease, 15f Simple renal cysts, 268t, 269t Simpson-Golabi-Behmel syndrome, 154t, 175t, 195t, 349t, 352t Single umbilical artery, 333–337 associated malformations and syndromes, 334–335, 335t embryology, 334 epidemiology, 333–334 evaluation, 335–337 prognosis, 337 Sirenomelia sequence, 336t Situs inversus, 205, 206t. See also Dextrocardia Skeletal dysplasias, 307–320 associated malformations and syndromes, 315t classification, 307
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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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Chapter 48 Single Umbilical Artery
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CHAPTER 48 SINGLE UMBILICAL ARTERY
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Page 356 and 357: Chapter 49 Sacral Dimple and Other
Page 358 and 359: CHAPTER 49 SACRAL DIMPLE AND OTHER
Page 364 and 365: Chapter 50 Hemihyperplasia and Over
Page 366 and 367: CHAPTER 50 HEMIHYPERPLASIA AND OVER
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 406 and 407: INDEX 389 clinical presentation, 30
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