Congenital malformations - Edocr

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327 Type 5 Proximal & distal Club feet, Limited Macular Mild short Normal interphalangeal vertical talus, expression, pigmenta- stature joint flexion, toe deep set tion, elbow, and wrist contractures eyes, abnormal contracture ptosis, ERG, opthalmo- scoliosis plegia Type 6 Same as type Stiffness of Normal Hearing loss Normal Normal 5 + ulnar toes deviation of fingers Type 7 Hecht Hyperextension Tight Trismus Mild short Normal syndrome of metacar- hamstrings stature Trismus- pophalangeal and calves, pseudocamp- joints, clubfeet, toe todactyly flexion contractures, syndrome contracture metatarsus of fingers varus Type 8 Dominant Ulnar deviation Tarsal coalition, Pterygium colli, Pterygium of Short Normal pterygium of fingers, calcaneo- short neck, axilla, elbow, syndrome finger valgus, hip ptosis, low- knee, contractures, dislocation set ears, scoliosis mild syndactyly retrognathia, downslanting palpebral fissures Type 9 Beals Proximal Hip and knee Distortion and Scoliosis, Normal Normal syndrome, interphalangeal contracture crumpling congenital <strong>Congenital</strong> joint Calcaneal of ears heart defects contractual contracture, deformity Micrognathia arachn- elbow of foot, odactyly contracture curved toes
328 PART VIII SKELETAL MALFORMATIONS etiology. The use of age-appropriate reference ranges and specific diagnostic criteria for nerve conduction studies, electromyography, and muscle biopsy are critical to the appropriate use of these diagnostic modalities and their interpretation. It is appropriate to restrict the use of nerve conduction studies, electromyography, and muscle biopsy to the cases in whom history, examination, and genetic evaluation have been unrevealing. Karyotpye evaluation should be considered in infants with associated systemic <strong>malformations</strong>. Genetic testing for survival motor neuron gene deletion, 22q11.2 deletion, and spinal muscular atrophy should be considered in selected cases based on clinical presentation. Ear, nose, and throat (ENT) evaluation including direct laryngobronchoscopy or oropharyngeal videofluoroscopy may be helpful in selected patients with upper airway symptoms. MANAGEMENT AND PROGNOSIS The joint contractures in these infants are nonprogressive but they become more severe over time if joint immobility is maintained. Thus the mainstay of management is improved joint mobility with the help of physiotherapy, splinting, and orthopedic surgery if necessary. The goals of treatment are to achieve lower-limb alignment and stability for ambulation and upper limb range of motion adequate for self-care. Recurrence of deformities with growth is frequently seen because the dense periarticular inelastic soft tissues do not properly elongate with growth. The management of most distal deformities first and then moving in a proximal direction is the recommended approach for lower extremities. It is strongly recommended that the treatment should not be delayed since results are very disappointing if treatment is initiated after 12 months of age. 10 The associated craniomaxillofacial anomalies, stiff jaw, and immobile tongue can result in feeding difficulties, recurrent respiratory infections, and failure to thrive and may benefit from early placement of tracheostomy and gastrostomy tubes. The long-term needs of these infants and families are best met by a comprehensive multidisciplinary team comprised of primary care physician, geneticist, neurologist, orthopedist, otolaryngologist, developmental pediatrician, dietician, physical and occupational therapist, psychologist, orthotist, speech therapist, and social worker. The prognosis of an infant with arthrogryposis will largely depend on underlying cause, presence or absence of associated syndrome, and the pathologic process. This emphasizes the need for a complete evaluation of all infants born with multiple congenital contractures. Overall, nearly 35–40% of all infants with multiple congenital contractures die during the neonatal period or infancy. 2,16 Infants requiring more than transient respiratory support have a high mortality. 17 Major congenital anomalies of the CNS and polyhydramnios are also reported to be poor prognostic signs for survival. Hall reported a mortality rate of 1% for infants with primarily limb involvement, 7% with limb and other organ involvement, and nearly 50% for those with limb and CNS involvement. 5 Feeding difficulties are reported in nearly two-thirds of all patients and nearly half of these patients have dysarthria and nearly one in four may have general language delay. 18 Among survivors, patients with normal intelligence and milder forms of contractures tend to have a better quality of life. Long-term outcome is particularly favorable for infants diagnosed to have classical arthrogryposis (AMC or amyoplasia) as these infants are reported to have normal to above normal intelligence. In a series of 38 patients, Sells et al reported that by the age of 5 years, 85% were ambulatory and most were in regular classrooms at the appropriate grade level. 11 GENETIC COUNSELING The recurrence risk will depend on the underlying etiology. In general, the recurrence risk is higher in the myopathic group than in the neuropathic group. Since amyoplasia or arthrogryposis multiplex congenita is a sporadic condition with
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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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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 316 and 317: Chapter 45 Limb Reduction Defects P
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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 356 and 357: Chapter 49 Sacral Dimple and Other
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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
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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
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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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