Congenital malformations - Edocr

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Chapter 36 Hirschsprung Disease PRAVEEN KUMAR INTRODUCTION Hirschsprung disease (<strong>Congenital</strong> intestinal aganglionosis, HSCR) is a genetically determined, surgically correctable, neonatal intestinal obstruction syndrome which was first described by Harald Hirschsprung in 1888. It is caused by abnormal innervation of the bowel, extending proximally from the internal anal sphincter to involve a variable length of gut. Hirschsprung disease has traditionally been divided into two types: a more common short segment disease (S-HSCR, also called type I HSCR) in which the aganglionic segment is restricted to the portion of the colon below the splenic flexure; and a less common long segment disease (L-HSCR, or type II HSCR) which affects a portion of intestine including and extending beyond the splenic flexure. EPIDEMIOLOGY/ETIOLOGY Hirschsprung disease is the most common cause of lower intestinal obstruction in neonates and has an overall incidence of 1 in 5000 live births. However, the incidence varies among different ethnic groups. The California Birth Defects Monitoring Program reported an incidence of 1.0/10,000 live births in Hispanics, 1.5/10,000 live births in whites, 2.1/10,000 live births in African Americans, and 2.8/10,000 live births in Asians. 1 The male:female ratio is 4:1 for short segment disease and approaches 1:1 as the length of involved segment increases to total colonic aganglionosis (TCA). S-HSCR is far more frequent than L-HSCR (80% versus 20%). Overall, a family history of HSCR is present in 7–10% of cases but as many as 21% of patients with TCA have a positive family history. Hirschsprung disease was initially thought to be a sex-modified multifactorial disorder. Early genetic studies of the familial cases of nonsyndromic Hirschsprung disease suggested a multigenic model to explain the usually nonmendelian inheritance pattern. However, great progress has been made in understanding the molecular genetics of Hirschsprung disease in recent years. 1–3 So far, mutations in nine partially interdependent genes have been shown to be associated with Hirschsprung disease (Table 36-1). These genes are associated with three different signaling pathways: (1) the RET receptor tyrosine kinase pathway; (2) the endothelin type B receptor pathway; and (3) the SOX 10 mediated transcription pathway. Some of the same RET mutations that cause Hirschsprung disease also cause multiple endocrine neoplasia, type 2A (MEN2A). Segregation analyses suggest an oligogenic mode of inheritance with little or no effect of environmental factors. Most identified gene mutations associated with Hirschsprung disease are best thought of as susceptibility genes which means 233 Copyright © 2008 by The McGraw-Hill Companies, Inc. Click here for terms of use.
TABLE 36-1 Gene Mutations Associated with Hirschsprung Disease 234 Gene Mutations Associated with Hirschsprung Disease (HSCR) Phenotype Gene Genetic Locus Inheritance Penetrance Frequency in HSCR Homozygote Heterozygote RET 10q11.2 AD Female 50% Familial–50% L-HSCR Hirschsprung disease Male 70% Sposedic–15–35% S-HSCR–17–38% L-HSCR–70–80% GDNF 5p12–13.1 AD Unknown
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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
Page 200 and 201: Chapter 28 Conotruncal Heart Defect
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Page 210 and 211: Chapter 29 Right Ventricular Outflo
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Page 216 and 217: Chapter 30 Left Ventricular Outflow
Page 218 and 219: CHAPTER 30 LEFT VENTRICULAR OUTFLOW
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Page 222 and 223: Chapter 31 Dextrocardia BARBARA K.
Page 224 and 225: CHAPTER 31 DEXTROCARDIA 207 with fu
Page 226 and 227: Chapter 32 Cardiomyopathy BARBARA K
Page 228 and 229: CHAPTER 32 CARDIOMYOPATHY 211 TABL
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Page 232 and 233: Part 6 Gastrointestinal Malformatio
Page 234 and 235: Chapter 33 Esophageal Atresia and T
Page 236 and 237: 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 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 268 and 269: Part VII Renal Malformations Copyri
Page 270 and 271: Chapter 39 Renal Agenesis PRAVEEN K
Page 272 and 273: CHAPTER 39 RENAL AGENESIS 255 propo
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Page 278 and 279: Chapter 40 Horseshoe Kidney PRAVEEN
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Page 288 and 289: CHAPTER 41 RENAL CYSTIC DISEASES 27
Page 294 and 295: 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
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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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