Congenital malformations - Edocr

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Chapter 7 Holoprosencephaly BARBARA K. BURTON INTRODUCTION Holoprosencephaly is a severe structural malformation of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles. It can be further subdivided into alobar holoprosencephaly in which there is a single ventricle and no separation of the cerebral hemispheres; semilobar holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly; and lobar holoprosencephaly in which most of the hemispheres and lateral ventricles are separate but the ventral portions of the frontal lobes are fused. EPIDEMIOLOGY/ETIOLOGY Holoprosencephaly is one of the most common developmental defects of the forebrain and may occur as frequently as 1 in 250 pregnancies, but a large majority of these fetuses do not survive to delivery. The defect occurs with an incidence of 1 in 10,000 to 1 in 20,000 live births. Between 25% and 50% of all infants with holoprosencephaly are found to have a chromosomal abnormality, and this should be the first consideration in any infant with this malformation. The most common chromosomal abnormality identified is trisomy 13 but a large number of numerical and structural chromosome abnormalities have been reported in association with holoprosencephaly. Maternal diabetes is an important nongenetic cause of holoprosencephaly with diabetic mothers having an overall risk of approximately 1% of having an affected infant. This is 20 times higher than the general population risk. There may be other teratogenic causes of this malformation but none have yet been conclusively identified in humans. Most cases of nonsyndromic holoprosencephaly are probably genetically determined with five autosomal dominant genes for the disorder having thus far been identified. 1 Mutations in these five genes account for approximately 50% of familial cases and less than 10% of sporadic cases of nonsyndromic holoprosencephaly (Table 7-1). A number of other candidate genes have also been identified. Of significance is the fact that expression of all five of the genes thus far identified is highly variable and all exhibit incomplete penetrance with approximately onethird of gene carriers having normal intelligence and no clinical manifestations whatsoever. Individual family members who do exhibit clinical manifestations may have obvious holoprosencephaly or much more subtle findings such as ocular hypotelorism, a single maxillary incisor or midline cleft lip with no central nervous system (CNS) findings. 2 Copyright © 2008 by The McGraw-Hill Companies, Inc. Click here for terms of use. 57
58 PART II CENTRAL NERVOUS SYSTEM MALFORMATIONS TABLE 7-1 Autosomal Dominant Genes for Holoprosencephaly (% of Patients with Mutations in the Gene) Familial Gene Locus Cases De Novo Cases SHH 7q36 30–40%
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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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Page 26 and 27: CHAPTER 1 DYSMORPHOLOGY 9 malformat
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Page 30 and 31: Chapter 2 Assessment of an Infant w
Page 32 and 33: CHAPTER 2 ASSESSMENT OF AN INFANT W
Page 38 and 39: Chapter 3 Genetic Counseling: Princ
Page 40 and 41: CHAPTER 3 GENETIC COUNSELING: PRINC
Page 56 and 57: Part II Central Nervous System Malf
Page 58 and 59: Chapter 4 Spina Bifida BARBARA K. B
Page 60 and 61: CHAPTER 4 SPINA BIFIDA 43 (Fig. 4-1
Page 62 and 63: CHAPTER 4 SPINA BIFIDA 45 TABLE 4-
Page 64 and 65: CHAPTER 4 SPINA BIFIDA 47 function,
Page 66 and 67: CHAPTER 4 SPINA BIFIDA 49 of the pr
Page 68 and 69: Chapter 5 Anencephaly BARBARA K. BU
Page 70 and 71: Chapter 6 Encephalocele BARBARA K.
Page 72 and 73: CHAPTER 6 ENCEPHALOCELE 55 TABLE 6
Page 76 and 77: CHAPTER 7 HOLOPROSENCEPHALY 59 EVA
Page 78 and 79: Chapter 8 Hydrocephalus BARBARA K.
Page 80 and 81: CHAPTER 8 HYDROCEPHALUS 63 TABLE 8
Page 82 and 83: CHAPTER 8 HYDROCEPHALUS 65 TABLE 8
Page 84 and 85: Chapter 9 Dandy-Walker Malformation
Page 86 and 87: CHAPTER 9 DANDY-WALKER MALFORMATION
Page 88 and 89: Chapter 10 Chiari Malformations BAR
Page 90 and 91: CHAPTER 10 CHIARI MALFORMATIONS 73
Page 92 and 93: CHAPTER 10 CHIARI MALFORMATIONS 75
Page 94 and 95: Chapter 11 Agenesis of the Corpus C
Page 96 and 97: CHAPTER 11 AGENESIS OF THE CORPUS C
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Page 100 and 101: Chapter 12 Craniosynostosis BARBARA
Page 102 and 103: CHAPTER 12 CRANIOSYNOSTOSIS 85 As a
Page 104 and 105: CHAPTER 12 CRANIOSYNOSTOSIS 87 cran
Page 106 and 107: CHAPTER 12 CRANIOSYNOSTOSIS 89 REFE
Page 108 and 109: Part III Craniofacial Malformations
Page 110 and 111: Chapter 13 Cleft Lip and Palate BRA
Page 112 and 113: CHAPTER 13 CLEFT LIP AND PALATE 95
Page 118 and 119: Chapter 14 Micrognathia BRAD ANGLE
Page 120 and 121: CHAPTER 14 MICROGNATHIA 103 Microgn
Page 122 and 123: 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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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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