Congenital malformations - Edocr

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CHAPTER 50 HEMIHYPERPLASIA AND OVERGROWTH DISORDERS 349 TABLE 50-1 Generalized Overgrowth Syndromes in Newborn Syndrome Features Etiology Beckwith-Wiedemann Macroglossia, infraorbital creases, ear lobe Autosomal dominant, creases and pits, abdominal wall defects, sporadic neonatal hypoglycemia, visceromegaly, risk for abdominal neoplasms, hemihypertrophy, polyhydramnios, large placenta Perlman Hypotonia, mental retardation, serration of upper Autosomal dominant alveolar ridge, nephromegaly, bilateral cortical hamartomas, and nephroblastomatosis Sotos Macrocephaly, dolichocephaly, downslanting Sporadic palpebral fissures, hypertelorism, prognathism, high narrow palate, premature eruption of teeth, large hands and feet, kyphoscoliosis, mental deficiency Weaver Mental retardation, hypertonia, hoarse voice, Sporadic macrocephaly, round face, ocular hypertelorism, down-slanting palpebral fissures, long philtrum, large ears, micrognathia, camptodactyly, thin deep-set nails, prominent fingertip pads Bannayan-Riley- Delayed gross motor development, hypotonia, Autosomal dominant Ruvalcaba speech delay, mental deficiency, macrocephaly, pseudopapilledema, mesodermal hamartomas, lipid storage myopathy Simpson-Golabi- Macrocephaly, ocular hypertelorism, short broad X-linked recessive Behmel nose, large mouth, macroglossia, variable mental retardation, hypotonia, postaxial polydactyly of hands, nail hypoplasia, partial cutaneous syndactyly, cryptorchidism, supernumerary nipples, cardiac defects, gastrointestinal defects, large cystic kidneys Elejalde Craniosynostosis, gross edema, short limbs, Autosomal recessive postaxial polydactyly, redundant neck skin, cystic renal dysplasia, congenital heart defect, spleen anomaly, micromelia Nevo Large, low-set malformed ears, cryptorchidism, Autosomal recessive accelerated osseous maturation, dolichocephaly, large extremities, clumsiness and retarded motor and speech development, generalized edema, hypotonia, contractures of the feet, wrist drop, clinodactyly Marshall-Smith Accelerated linear growth, skeletal maturation, Sporadic postnatal failure to thrive, hypotonia, development delay, structural brain anomalies, respiratory tract anomalies, recurrent pneumonia, pulmonary hypertension, dolichocephaly, coarse eyebrows, shallow orbits, blue sclerae, upturned nose, low nasal bridge, small mandibular ramus, hypertrichosis, umbilical hernia, choanal atresia, omphalocele
350 PART IX MISCELLANEOUS MALFORMATIONS army recruits, only 23% were found to have lower extremities of equal length; and 15% had a discrepancy of 1.0 cm or more. 6 Based on these studies, a threshold of a 5% difference was proposed to define abnormal asymmetry which would translate into a difference of
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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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Page 338 and 339: Chapter 47 Arthrogryposis PRAVEEN K
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Page 348 and 349: Part IX Miscellaneous Malformations
Page 350 and 351: 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
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
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