Congenital malformations - Edocr

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Chapter 41 Renal Cystic Diseases PRAVEEN KUMAR INTRODUCTION The term renal cystic disease encompasses a common and heterogeneous group of conditions that can present in fetal life, childhood, or later in adult life. Renal cysts in the perinatal period represent abnormal dilatation of a part of the renal tubule as a result of hereditary or nonhereditary developmental disorders, and depending on the underlying process, either one or both kidneys can be affected. Renal cysts can present as the sole manifestation of disease, can accompany other renal/extrarenal anomalies, or can be part of a systemic disorder or syndrome. With the widespread use, better resolution, and increasing expertise in the use of antenatal and postnatal ultrasound, these lesions are increasingly being detected prenatally and in early neonatal period. Over the years, many different classifications have been proposed for renal cystic diseases. One of the earliest classifications was proposed by Osathanondh and Potter in 1964 and classified renal cystic disease of the newborn in the following four groups: type I included autosomal recessive polycystic kidney disease (ARPKD); type II cystic kidneys included dysplastic and multicystic kidneys and could be unilateral or bilateral; type III represented autosomal dominant polycystic kidney disease (ADPKD); and type IV included cystic kidneys due to an obstruction of the outflow tract. 1 In 1987, The Committee on Classification, Nomenclature, and Terminology of the American Academy of Pediatrics Section on Urology proposed an expanded classification to include all causes of renal cystic diseases (Table 41-1). 2 EPIDEMIOLOGY ADPKD is one of the most common hereditary disorders in humans and accounts for 5% of the end stage renal disease patients in the United States. 3 It affects 1 in 400 to 1 in 1000 live births but only a small percentage of all affected patients present during the perinatal period. The most common cause of renal cystic disease in a newborn is multicystic dysplastic kidney (MCDK) and the incidence of this disorder is reported to range from 1 in 1000 to 1 in 4500 live births. The estimated prevalence of ARPKD, a rare type of renal cystic disease with common perinatal presentation, is 1 in 20,000 live births with a heterozygote frequency of 1 in 70. 3,4 Other renal cystic diseases of the newborn are encountered only rarely. The overall birth prevalence of renal cysts in the newborn has been reported to range from 0.05 to 0.5 per 1000 live births in population based congenital anomaly birth 265 Copyright © 2008 by The McGraw-Hill Companies, Inc. Click here for terms of use.
266 PART VII RENAL MALFORMATIONS TABLE 41-1 Classification of Renal Cystic Diseases Genetic A. Autosomal recessive (infantile) polycystic kidneys B. Autosomal dominant (adult) polycystic kidneys C. Juvenile nephronophthisis—medullary cystic disease complex 1. Juvenile nephronophthisis (autosomal recessive) 2. Medullary cystic disease (autosomal dominant) D. <strong>Congenital</strong> nephrosis (autosomal recessive) E. Cysts associated with multiple malformation syndromes Nongenetic A. Multicystic kidney (multicystic dysplasia) B. Multilocular cyst (multilocular cystic nephroma) C. Simple cysts D. Medullary sponge kidneys (
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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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Page 234 and 235: Chapter 33 Esophageal Atresia and T
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Page 240 and 241: Chapter 34 Duodenal Atresia PRAVEEN
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Page 244 and 245: Chapter 35 Anorectal Malformations
Page 246 and 247: CHAPTER 35 ANORECTAL MALFORMATIONS
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Page 250 and 251: Chapter 36 Hirschsprung Disease PRA
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Page 258 and 259: Chapter 37 Omphalocele PRAVEEN KUMA
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Page 264 and 265: Chapter 38 Gastroschisis PRAVEEN KU
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Page 270 and 271: Chapter 39 Renal Agenesis PRAVEEN K
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Page 278 and 279: Chapter 40 Horseshoe Kidney PRAVEEN
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Page 294 and 295: Chapter 42 Posterior Urethral Valve
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Page 302 and 303: Chapter 43 Polydactyly PRAVEEN KUMA
Page 304 and 305: CHAPTER 43 POLYDACTYLY 287 Temtamy
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Page 310 and 311: Chapter 44 Syndactyly PRAVEEN KUMAR
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CHAPTER 46 SKELETAL DYSPLASIAS 315
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CHAPTER 46 SKELETAL DYSPLASIAS 317
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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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Chapter 49 Sacral Dimple and Other
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CHAPTER 49 SACRAL DIMPLE AND OTHER
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Chapter 50 Hemihyperplasia and Over
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CHAPTER 50 HEMIHYPERPLASIA AND OVER
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Chapter 51 Cystic Hygroma PRAVEEN K
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CHAPTER 51 CYSTIC HYGROMA 357 in la
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Trisomy 18 IUGR, low-set malformed
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CHAPTER 51 CYSTIC HYGROMA 361 and o
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Glossary of Genetic Terms A Acquire
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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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