Congenital malformations - Edocr

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Web Resources General Birth Defect Links: Alliance of Genetic Support Groups http://www.geneticalliance.org Birth Defect Research for Children, Inc. http://www.birthdefects.org Birth Defects Support Groups www.ibis-birthdefects.org/ Centers for Birth Defects Research and Prevention www.cdc.gov/ncbddd/pub/cbdrpbk.pdf The Family Village http://www.familyvillage.wisc.edu GeneClinics http://www.geneclinics.org Gene Tests www.genetests.org Genetic Alliance http://www.geneticalliance.org Genetic Disorders & Birth Defects Information Center http://geneinfo.medlib.iupui.edu/ Genetic Laboratories www.kumc.edu/ International Clearinghouse for Birth Defects Monitoring Systems http://www.icbd.org Internet Resources for Special Children (IRSC) http://irsc.org March of Dimes Birth Defects Foundation http://www.marchofdimes.com The National Association of Parents with Children in Special Education (NAPCSE) http://www.napcse.org National Birth Defects Prevention Network (NBDPN) http://www.nbdpn.org/NBDPN National Organization for Rare Diseases (NORD) http://www.rarediseases.org/ The National Rehabilitation Information Center http://www.naric.com/ National Society of Genetic Counselors http://www.nsgc.org OMIM: Online Mendelian Inheritance in Man www.ncbi.nlm.nih.gov/OMIM Organization for Teratology Information Services (OTIS) http://www.otispregnancy.org Syndromes without a Name http://www.undiagnosed-usa.org Teratology Society http://www.teratology.org The National Down Syndrome Society http://www.ndss.org/ The Noonan Support Group (TNSSG) http://www.noonansyndrome.org Turner Syndrome Society of the United States http://www.turner-syndrome-us.org/ Central Nervous System Malformations: About Face USA http://www.aboutfaceusa.org American Syringomyelia Alliance Project http://www.asap.org/ Anencephaly Net http://www.anencephaly.net/ Anencephaly Support Foundation http://www.asfhelp.com Children’s Craniofacial Association http://www.ccakids.com FACES: The National Craniofacial Association http://www.faces-cranio.org Forward Face, Inc. http://www.forwardface.org Headlines Craniofacial Support http://www.headlines.org.uk Holoprosencephaly http://hpe.home.att.net/ Hydrocephalus Association http://www.hydroassoc.org/ The Hydrocephalus Foundation, Inc. www.hydrocephalus.org/ 375 Copyright © 2008 by The McGraw-Hill Companies, Inc. Click here for terms of use.
376 WEB RESOURCES International Federation for Spina Bifida and Hydrocephalus http://www.ifglobal.org/ National Hydrocephalus Foundation http://nhfonline.org NIH/National Institute of Child Health and Human Development http://www.nih.gov/ National Institute of Neurological Disorders and Stroke (NINDS) http://www.ninds.nih.gov/ National Organization of Disorders of the Corpus Callosum http://www.nodcc.org/ Spina Bifida Association of America http://www.sbaa.org/ Velo-Cardio-Facial Syndrome Educational Foundation, Inc. http://www.vcfsef.org World Arnold Chiari Malformation Association http://www.wacma.com/ Craniofacial Malformations: American Cleft Palate-Craniofacial Association (ACPA) http://www.acpa-cpf.org American Foundation for the Blind http://www.afb.org American Speech-Language-Hearing Association http://www.asha.org The Arc (A National Organization on Mental Retardation) http://www.thearc.org/ CHARGE Syndrome Foundation http://www.chargesyndrome.org/ Children’s Craniofacial Association http://www.ccakids.com/ Cleft Plate Foundation http://www.cleftline.org/ FACES the National Craniofacial Association http://www.faces-cranio.org/ Helen Keller National Center for Deaf-Blind Youths and Adults http://www.hknc.org Let Them Hear Foundation http://www.letthemhear.org Micro and Anophthalmic Children’s Society http://www.macs.org.uk/ National Association for Parents of Children with Visual Impairments (NAPVI) http://www.napvi.org Pierre Robin Network http://www.pierrerobin.org/ Wide Smiles http://www.widesmiles.org/ Respiratory Malformations: CHERUBS http://www.cherubs-cdh.org/ Cardiac Malformations: American Heart Association http://www.americanheart.org/ <strong>Congenital</strong> Heart Information Network http://tchin.org/ <strong>Congenital</strong> Heart Defect Resources http://www.congenitalheartdefects.com Gastrointestinal Malformations: EA/TEF Support Connection http://www.eatef.org/ GEEPS http://www.geeps.co.uk/ The Pull-thru Network http://www.pullthrough.org/ Tef Vater Web http://www.tefvater.org/ The International Ostomy Association http://www.ostomyinternational.org/ United Ostomy Associations of America http://www.uoaa.org/ VATER Connection http://www.vaterconnection.org/ Renal Malformations: American Association of Kidney Patients http://www.aakp.org National Kidney Foundation http://www.kidney.org NIH/National Institute of Diabetes, Digestive & Kidney Diseases http://www.niddk.nih.gov Polycystic Kidney Disease Foundation http://www.pkdcure.org/site/PageServer Potter’s Syndrome http://www.potterssyndrome.org/ Skeletal Malformations: AMC Support http://www.amcsupport.org/ Avenues-Arthrogryposis Multiplex Congenita http://www.avenuesforamc.com/
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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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Page 174 and 175:
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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
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 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 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
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