Congenital malformations - Edocr

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Chapter 49 Sacral Dimple and Other Cutaneous Markers of Occult Spinal Dysraphism PRAVEEN KUMAR INTRODUCTION The association between congenital cutaneous lesions and underlying dysraphic conditions of the spinal cord has been known for several decades. Spinal dysraphism is one of the most common congenital <strong>malformations</strong> of the central nervous system (CNS). The incidence of open defects, such as meningomyelocele, is reported to be up to 2 per 1000 live births and the occult lesions are likely to have an even higher incidence. Since a significant proportion of individuals with occult spinal dysraphism remain asymptomatic and are never diagnosed, the exact incidences of occult spinal dysraphism and cutaneous markers of occult spinal dysraphism are not entirely clear. Although as many as 45–95% of infants with occult spinal dysraphism have a cutaneous abnormality of the lumbosacral region, not all cutaneous lesions can accurately predict the presence of an underlying occult spinal dysraphism. 1,2 EPIDEMIOLOGY The incidence of potential dorsal cutaneous markers of occult spinal dysraphism in the healthy neonatal population is reported to range from 1.9% to 7.2%. 3–6 North American and British studies have reported simple dimples as the most common cutaneous marker and these lesions account for 75% of all infants presenting with cutaneous markers of occult spinal dysraphism. 3,5 In contrast, a hair patch was the most common finding in the only study from South America, highlighting ethnic differences in the distribution of these findings. 6 Nearly 2–8% of all infants with cutaneous markers are diagnosed to have occult spinal dysraphism on spinal ultrasound and as many as 40% of all infants with atypical dimples and 60–70% of all infants with two or more cutaneous markers have been reported to have underlying occult spinal dysraphism on screening ultrasound. 1,3,5,7 More than one cutaneous lesion suggestive of occult 339 Copyright © 2008 by The McGraw-Hill Companies, Inc. Click here for terms of use.
340 PART IX MISCELLANEOUS MALFORMATIONS spinal dysraphism are reported in about 5% of all infants with cutaneous markers but are present in nearly two-thirds of all infants with occult spinal dysraphism. 8 No consistent risk factors or gender differences have been reported. these lesions are seen in the lumbosacral region but may also be present in cervical or thoracic region and have similar clinical significance. The following skin lesions have been described in these patients. EMBRYOLOGY Both skin and nervous system share a common ectodermal origin during early embryogenesis. The separation of neural and cutaneous ectoderm, a process called disjunction, occurs between the third and fifth week of gestation and is one of the most vulnerable stages in the human development. With complete separation of neural and cutaneous ectoderm, mesoderm inserts between these two layers and forms meninges, vertebral column, and muscles. Incomplete separation of neural and cutaneous ectoderm results in abnormal development of the spinal cord with or without a persistent connection with the overlying skin and may also produce abnormalities in the tissues derived from mesoderm and cutaneous ectoderm. CLINICAL PRESENTATION The term occult spinal dysraphism includes a variety of spinal <strong>malformations</strong> which are caused by imperfect fusion of midline neural, mesenchymal, and bony structures and are covered by intact skin. In most cases, the neural lesion is often subtle, and the major overt abnormality involves the vertebrae, the overlying dermal structures, or both. The skin lesions associated with occult spinal dysraphism have been reported under many different names such as “dermal stigmata,” “cutaneous markers,” and “cutaneous signatures” among others, and usually are the only clinical feature suggestive of occult spinal dysraphism in an otherwise healthy newborn. Cutaneous markers are present in nearly 45–95% of all patients with occult spinal dysraphism and may occur alone or in combination. 2,9,10 Most of DIMPLES AND DERMAL SINUSES Cutaneous dimples (Fig. 2-5) are commonly seen in lumbosacral area and are a common cause of physician anxiety. Although, these can be a sign of occult spinal dysraphism, most infants are healthy and do not require any imaging studies. A cutaneous dimple within the gluteal crease is usually benign and is also called a typical or simple dimple or coccygeal pit, and may occur in nearly 4–5% of normal infants. 11,12 Lesions which are >5 mm in diameter, >2.5 cm above the anus or cephalad to the gluteal crease or associated with other cutaneous markers are called atypical dimples. Atypical dimples are associated with occult spinal dysraphism in as many as 40% of patients and neuroimaging studies are indicated in these infants. Dimples are sometimes referred to as “shallow” or “deep” dimples based on whether the bottom of the canal is visible or not. This observation is not reliable and should not be used as a criterion for further workup. Dermal sinuses are epithelium-lined fistulae which extend from the skin surface inward for a variable distance and connect to the meninges in nearly 50% of cases. 13 The incidence of dermal sinuses is reported as 1 in 2500 live births. 11 A midline dimple may be an only finding on clinical examination. Associated vertebral anomalies are not common but have been reported. Complications of dermal sinuses are related to their association with dermoid or epidermoid tumors, association with other types of occult spinal dysraphism and the risk of infection. Tethered cord may be present in nearly 80% and intradural tumor in 50% of patients with dermal sinuses. 11 These lesions are located above the gluteal cleft and tract is directed superiorly and may extend a considerable distance to terminate
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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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Page 316 and 317: Chapter 45 Limb Reduction Defects P
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Page 328 and 329: 311 Achondrogenesis Autosomal Sever
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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
Page 352 and 353: CHAPTER 48 SINGLE UMBILICAL ARTERY
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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 404 and 405: INDEX 387 Neurofibromatosis type I,
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INDEX 389 clinical presentation, 30
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