Congenital malformations - Edocr

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CHAPTER 14 MICROGNATHIA 103 Micrognathia Isolated Micrognathia Other Anomalies Intrauterine Constraint Intrinsic Mandibular Hypoplasia Cleft Palate Significant Craniofacial Findings Significant Noncraniofacial Anomalies Evaluate for Robin Sequence Primary Craniofacial Disorders: Treacher Collins, OAV Spectrum, and Others Other Syndromes and Chromosome Abnormalities Figure 14-2. Algorithm for identifying causes of mandibular hypoplasia. pulling the tongue out of the hypopharynx and relieving upper airway obstruction. This procedure has proven to be highly successful in neonates with severe micrognathia. 5 Some, but not all, patients may outgrow their micrognathia without intervention. Infants with deformational hypoplasia have the best prognosis because of the mandibular growth potential that is present once the deforming forces have been removed. The natural history of mandibular growth in patients with isolated Robin sequence is typically one of continued development, as well. Micrognathia associated with more complex conditions such as OAV spectrum and TCS is more likely to persist over time. 3,6 GENETIC COUNSELING In cases of infants who have isolated mild mandibular hypoplasia with subsequent selfcorrection, the most likely etiology is intrauterine constraint and the recurrence risk appears to be low. Severe, isolated mandibular hypoplasia requiring aggressive interventions (e.g., tracheostomy, mandibular distraction osteogenesis) is most likely a result of an intrinsic malformational process of unknown etiology. The recurrence risk in these cases is unknown. The recurrence risk for infants with identified syndromes is dependent on the inheritance pattern of the specific disorder. REFERENCES 1. Spranger J, Benirschke, Hall JG, et al. Errors of morphogenesis: concepts and terms. Recommendations of an international working group. J Pediatr. 1982;100:160. 2. Sperber GH. Craniofacial Development. London, BC Decker Inc; 2001:127–38. 3. Singh DJ, Bartlett SP. <strong>Congenital</strong> mandibular hypoplasia: analysis and classification. J Craniofac Surg. 2005;16:291–300.
104 PART III CRANIOFACIAL MALFORMATIONS 4. Caoette-Laberge L, Bayet B, Larocque Y. The Pierre Robin sequence: a review of 125 cases and evolution of treatment modalities. Plast Reconstr Surg. 1994;93:934–42. 5. Mandell DL, Yellon RF, Bradley JP, et al. Mandibular distraction for micrognathia and severe upper airway obstruction. Arch Otolaryngol Head Neck Surg. 2004;130:344–8. 6. Sidman JD, Sampson D, Templeton B. Distraction osteogenesis of the mandible for airway obstruction in children. Laryngoscope. 2001;111:1137–46.
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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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Page 72 and 73: CHAPTER 6 ENCEPHALOCELE 55 TABLE 6
Page 74 and 75: Chapter 7 Holoprosencephaly BARBARA
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
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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 122 and 123: Chapter 15 Congenital Anomalies Ass
Page 124 and 125: CHAPTER 15 CONGENITAL ANOMALIES ASS
Page 126 and 127: CHAPTER 15 CONGENITAL ANOMALIES ASS
Page 128 and 129: Chapter 16 Ear Anomalies BRAD ANGLE
Page 130 and 131: CHAPTER 16 EAR ANOMALIES 113 Figure
Page 132 and 133: CHAPTER 16 EAR ANOMALIES 115 Figure
Page 134 and 135: Chapter 17 Choanal Atresia BRAD ANG
Page 136 and 137: CHAPTER 17 CHOANAL ATRESIA 119 been
Page 138 and 139: Chapter 18 Coloboma BRAD ANGLE INT
Page 140 and 141: CHAPTER 18 COLOBOMA 123 typically a
Page 142 and 143: Chapter 19 Cataract BRAD ANGLE INT
Page 144 and 145: CHAPTER 19 CATARACT 127 Isolated Ca
Page 146 and 147: CHAPTER 19 CATARACT 129 associated
Page 148 and 149: CHAPTER 19 CATARACT 131 2. Zetterst
Page 150 and 151: Part IV Respiratory Malformations C
Page 152 and 153: Chapter 20 Congenital High Airway O
Page 154 and 155: CHAPTER 20 CONGENITAL HIGH AIRWAY O
Page 156 and 157: Chapter 21 Pulmonary Agenesis SANDR
Page 158 and 159: CHAPTER 21 PULMONARY AGENESIS 141 k
Page 160 and 161: Chapter 22 Pulmonary Hypoplasia SAN
Page 162 and 163: CHAPTER 22 PULMONARY HYPOPLASIA 145
Page 164 and 165: Chapter 23 Congenital Cystic Adenom
Page 166 and 167: CHAPTER 23 CONGENITAL CYSTIC ADENOM
Page 168 and 169: 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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