Congenital malformations - Edocr

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INDEX 389 clinical presentation, 309, 310–314t, 315t embryology, 308 epidemiology, 307–308 etiology, 308–309, 310–314t evaluation, 309, 315–316, 315t, 319f genetic counseling, 320 prognosis, 316 radiological findings, 317–318t recurrence risk, 310–314t Smith-Lemli-Opitz syndrome biochemical testing, 18 cardiac lesions, 176t, 201t clinical features, 127, 176t, 201t, 238t, 257t, 272t, 289t, 296t diagnosis, 127–128, 130t etiology, 176t, 201t, 238t Sotos syndrome, 349t, 352t Spina bifida. See Meningocele; Myelomeningocele Spina bifida occulta, 44 Spinal dysraphism, occult associated findings, 343 clinical presentation, 44, 340–343, 341–343f embryology, 340 epidemiology, 339–340 evaluation, 343–344 genetic counseling, 344 Spondyloepiphyseal dysplasia congenita, 97, 313t Spondylothoracic dysplasia, 336t Stickler syndrome, 96–97 Surfactant, for congenital diaphragmatic hernia, 156 Syndactyly, 293–296 associated malformations and syndromes, 295, 296t clinical presentation, 293–294 embryology, 293 epidemiology, 293 evaluation, 295 genetic counseling, 295 management, 295 types, 294 Synpolydactyly, 294. See also Syndactyly T TACRD pattern/association, 136, 225t Tail, 343, 343f Tay-Sachs disease, 31t TBS. See Townes-Brocks syndrome Teratogens, 6–7, 7t. See also specific agents Tetralogy of Fallot, 188–191 associated malformations and syndromes, 185–186t, 189–190 clinical presentation, 189, 190f embryology, 188–189 epidemiology, 189 evaluation, 189–190 genetic counseling, 190–191 management and prognosis, 190 Thanatophoric dysplasia, 310t, 358t. See also Skeletal dysplasias Thoracentesis for congenital hydrothorax, 161–162 Thrombocytopenia-absent radius (TAR) syndrome, 176t, 303t Toriello-Carey syndrome, 80t, 176t Townes-Brocks syndrome (TBS) cardiac lesions, 176t clinical features, 176t, 225t, 231t, 279t, 290t ear anomalies, 114 etiology, 176t, 225t, 231t Toxoplasmosis, congenital, 63t Tracheoesophageal fistula. See Esophageal atresia/tracheoesophageal fistula Transposition of the great arteries, 186–188 associated malformations and syndromes, 185t, 187–188 clinical presentation, 187 embryology, 186–187 epidemiology, 187 evaluation, 188 genetic counseling, 188 treatment and prognosis, 188 Treacher Collins syndrome, 102 Tricuspid atresia associated syndromes, 194 clinical presentation, 193 prognosis, 196 recurrence risk, 196t Trigonocephaly, 86 Trimethadione syndrome, fetal, 185t Triple screen, 29 Triploid/diploid mixoploidy, 350t Triploidy syndrome, 63t, 244t, 296t Trismus-pseudocamptodactyly syndrome, 327t. See also Arthrogryposis Trisomy 8, partial, 185t Trisomy 13 (Patau syndrome) cardiac lesions, 174t, 185t, 201t clinical features, 145t, 174t, 178f, 185t, 201t, 231t, 244t, 263t, 272t, 289t, 336t, 358t etiology, 174t, 201t limb reduction defects, 302 Trisomy 18 (Edwards syndrome) cardiac lesions, 174t, 185t, 201t clinical features, 145t, 161t, 174t, 178f, 185t, 201t, 220t, 231t, 244t, 263t, 272t, 289t, 324t, 336t, 359t etiology, 174t, 201t, 220t prenatal diagnosis, 29, 31 Trisomy 21 (Down syndrome) anorectal malformations, 230 cardiac lesions, 174t, 185t clinical features, 14f, 15f, 161t, 174t, 185t, 220t, 225t, 231t, 238t, 244t, 290t, 359t duodenal atresia in, 224 etiology, 185t, 220t limb reduction defects, 302 prenatal diagnosis, 29, 31–32 Truncus arteriosus, 183–186 associated malformations and syndromes, 184, 185t clinical presentation, 184 embryology, 183 epidemiology, 184
390 INDEX Truncus arteriosus (Cont.): evaluation, 184 genetic counseling, 186t management and prognosis, 186t Tuberous sclerosis, 272t Turner syndrome cardiac lesions, 201t, 202 clinical features, 161t, 201t, 202f, 263t, 359t etiology, 201t, 359t prenatal diagnosis, 29, 31 U Ultrasonography in neural tube defects, 44–45, 45f for prenatal diagnosis, 36 Urioste syndrome, 167t Urorectal septum malformation sequence, 231t, 279t, 336t V VACTERL syndrome/association anorectal malformations, 229 cardiac lesions, 176t, 186t clinical features, 63t, 176t, 186t, 220t, 231t, 257t, 263t, 273t, 279t, 303t, 336t etiology, 63t, 220t limb reduction defects, 302, 302t Valproic acid embryopathy cardiac defects, 177t cleft lip/palate, 93 clinical features, 7t, 46t, 177t etiology, 46t neural tube defects, 42 Van der Woude syndrome, 94, 94f Varicella zoster embryopathy, 7t VATER syndrome, 63t Velocardiofacial syndrome, 73t, 174t, 220t, 231t. See also 22q11 deletion syndrome Ventricular septal defect associated malformations and syndromes, 174–177t diagnosis, 178–179 etiology, 179 genetic counseling, 179–180 incidence, 179 treatment and prognosis, 179 Ventriculomegaly in utero, 62 Vestigial tail, 343, 343f Vitamin A embryopathy, 46t VLCAD deficiency, 211t W Waardenburg syndrome, 220t Waardenburg syndrome, type 1, 46t Walker-Warburg syndrome clinical features, 55t, 63t, 68t, 69f, 80t coloboma in, 122 etiology, 55t, 63t, 68t, 80t Warfarin embryopathy, 7t Weaver syndrome, 349t, 352t Whistling face syndrome, 326t. See also Arthrogryposis Williams syndrome cardiac lesions, 195t, 202 clinical features, 73t, 195t etiology, 73t, 195t Wilms tumor in Beckwith-Wiedemann syndrome, 353 horseshoe kidney and, 264 Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome, 121–122 Wolf-Hirschhorn syndrome (4p deletion syndrome), 95, 174t X X-linked disorders, 25–26, 25f, 26f Y Yellow nail syndrome, 167t Z Zellweger syndrome biochemical testing, 18 clinical features, 127, 273t, 324t, 336t congenital cataracts in, 127 diagnosis, 130t genetics, 130t Zygodactyly, 294. See also Syndactyly
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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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CHAPTER 48 SINGLE UMBILICAL ARTERY
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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
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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,
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