Congenital malformations - Edocr

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CHAPTER 46 SKELETAL DYSPLASIAS 317 TABLE 46-3 Summary of Radiological Findings in Patients with Skeletal Dysplasia Finding A. Bone Density Generalized undermineralization or osteopenic Overmineralization or osteosclerosis B. Spine Frontal view Progressively decreasing interpediculate distance Absence of pedicle ossification in lower thoracic spine Lateral view Generalized vertebral dysplasia Coronal cleft vertebra Wafer-thin vertebral bodies (severe platyspondyly) Hypoplastic odontoid Cervical kyphosis C. Pelvis Flat acetabular angle Hypoplastic square iliac bones Widened symphysis pubis D. Chest Frontal view Long narrow chest (2° to rib shortening) -Mild -Severe Short and wide chest (2° to short spine) -Mild -Severe Beading of ribs Absent or hypoplastic clavicles Hypoplastic scapulae Likely Diagnosis Osteogenesis imperfecta Hypophosphatasia Achondrogenesis Osteopetrosis Pyknodysostosis Dysostosclerosis Thanatophoric dysplasia Achondroplasia Diastrophic dysplasia Campomelic dysplasia Spondyloepiphyseal dysplasia Hypochondroplasia Chondrodysplasia punctata Thanatophoric dysplasia Spondyloepiphyseal dysplasia Diastrophic dysplasia Campomelic dysplasia Achondroplasia Thanatophoric dysplasia Achondroplasia Thanatophoric dysplasia Spondyloepiphyseal dysplasia Hypochondrogenesis Achondrogenesis Cleidocranial dysplasia Achondroplasia Thanatophoric dysplasia Asphyxiating thoracic dystrophy Spondyloepiphyseal dysplasia Achondrogenesis Osteogenesis imperfecta type II Achondrogenesis Cleidocranial dysplasia Campomelic dysplasia (Continued)
318 PART VIII SKELETAL MALFORMATIONS TABLE 46-3 Summary of Radiological Findings in Patients with Skeletal Dysplasia (Continued) Finding E. Limbs Bowing -Mild -Severe Epiphyseal stippling Small or irregular epiphyses Trident hand Rhizomelic micromelia (humeri & femora) Mild Severe Mesomelic micromelia (ulna/radius and or tibia/fibula) Acromelic micromelia Nonspecific micromelia F. Skull Cloverleaf skull Widening of cranial sutures and fontanelle G. Other findings Fractures Likely Diagnosis Achondroplasia Thanatophoric dysplasia Campomelic dysplasia Osteogenesis imperfecta Chondrodysplasia punctata Multiple epiphyseal dysplasia Spondyloepiphyseal dysplasia Achondroplasia Achondroplasia Spondyloepiphyseal dysplasia Hypochondrogenesis Thanatophoric dysplasia Achondrogenesis Chondrodysplasia punctata (recessive type) Campomelic dysplasia Asphyxiating thoracic dystrophy Chondro-ectodermal dysplasia Osteogenesis imperfecta Diastrophic dysplasia Chondrodysplasia punctata (dominant type) Hypophosphatasia Thanatophoric dysplasia Hypophosphatasia Achondrogenesis Cleidocranial dysplasia Osteogenesis imperfecta Osteopetrosis Hypophosphatasia Achondrogenesis days of life. Infants with mild to moderate pulmonary insufficiency may survive neonatal period but may succumb to ongoing pulmonary morbidity later in life. There are some recent reports of survival with aggressive perinatal management in infants previously considered to have a lethal skeletal dysplasia such as thanatophoric dysplasia. 14 These infants frequently have severe growth retardation and chronic respiratory insufficiency and some have mental retardation either secondary to underlying central nervous system anomalies or as a result of chronic respiratory insufficiency. 14 Infants with nonlethal skeletal dysplasias such as
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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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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
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Page 316 and 317: Chapter 45 Limb Reduction Defects P
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Page 336 and 337: Pathological Fractures or Abnormal
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
Page 352 and 353: 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
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GLOSSARY OF GENETIC TERMS 367 Gene
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GLOSSARY OF GENETIC TERMS 369 Locus
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GLOSSARY OF GENETIC TERMS 371 Prena
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GLOSSARY OF GENETIC TERMS 373 X X c
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Web Resources General Birth Defect
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WEB RESOURCES 377 Children’s Brit
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Index Page numbers followed by f or
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INDEX 381 polydactyly and, 288t ren
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INDEX 383 genetic counseling, 225 m
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INDEX 385 Haddad syndrome, 238t Hai
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INDEX 387 Neurofibromatosis type I,
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INDEX 389 clinical presentation, 30
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