Congenital malformations - Edocr

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CHAPTER 47 ARTHROGRYPOSIS 325 obscure, it should be distinguished from spinal muscular atrophy (SMA) which has a well-defined genetic basis and recurrence risk. Clinically, infants with AMC have reduced or absent skin folds around affected joints and smooth skin with dimples is seen at the large joints. In a classical case, the limbs have a fusiform appearance. The shoulder joints are held in adduction, the elbow joints in extension, the wrists in flexion, the thumbs adducted, and the finger joints in flexion. Similarly, the common findings in the lower extremities are hip subluxation, knee hyperextension, and talipes equinovarus deformity of feet. The muscles are firmer than normal due to reduced mass and an increase in fibrous tissue. The spinal muscles are involved in more severe cases and this may make it difficult for the child to sit or stand upright. A similar clinical picture, muscle biopsy findings, disease course, and recurrence risk has been reported in the past as amyoplasia. 11,12 These authors estimated that nearly one-third of all patients with arthrogryposis have amyoplasia. However, nearly 10% of these patients were also reported to have other anomalies such as bowel atresia and abdominal wall defects which would exclude them under the more strict definition of AMC based on IFSSH report. DISTAL ARTHROGRYPOSIS The term distal arthrogryposis is used to describe patients with congenital contractures of distal joints of upper or lower extremities and sparing of proximal joints. Initial classifications by Hall et al 4,5 have been subsequently revised and expanded by other authors. 13,14 Bamshad et al defined distal arthrogryposis as “an inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.” This definition excludes all disorders in which structural CNS anomalies, cognitive delay, abnormal neurologic tests, and/or abnormal muscle biopsies are primary features. This new revised classification of distal arthrogryposis includes nine distinct types which are characterized by a common pattern of congenital distal joint contractures, minimal proximal joint involvement, and an autosomal dominant inheritance pattern with reduced penetrance and variable expressivity. A detailed description of these syndromes was recently published by Beals in 2005 and a summary of important findings is presented in Table 47-3. 14 EVALUATION A detailed family history, pregnancy history, and complete physical examination to evaluate extent of joint involvement as well as to determine the presence or absence of associated dysmorphic features and systemic congenital <strong>malformations</strong> are crucial in evaluating an infant with multiple congenital contractures. An early evaluation by a geneticist, neurologist, orthopedic surgeon, and physical therapist is likely to be helpful in identifying the underlying cause and in developing a comprehensive management plan. The infants with the neuropathic type of arthrogryposis have a higher likelihood of associated congenital anomalies while infants with myopathic arthrogryposis have a high likelihood of a positive family history of neuromuscular disease and have few associated anomalies. Since the majority of these infants have a neuropathic etiology, all infants with multiple congenital contractures should be evaluated with a magnetic resonance imaging (MRI) of brain and spinal cord. An electroencephalogram (EEG) has also been reported to be helpful in predicting prognosis. 15 Echocardiogram and abdominal ultrasound may be necessary to exclude anomalies of other systems and a hearing screen should be done on all infants. Serum creatine phosphokinase levels, electromyography, and muscle biopsy may help to distinguish neuropathic from myopathic cases. However, their routine use and benefit is controversial. Generalized progressive weakness, myopathic facies, and abnormal muscle texture would suggest need for workup for myopathic
TABLE 47-3 Classification and Summary of Clinical Features of Distal Arthrogryposis Syndromes Bamshad Other Upper Lower Facial Other Classification Names Limbs Limbs Features Features Stature Intelligence 326 Type 1 Digitotalar Adducted thumbs, Club fect, Normal None Normal Normal dysmor- ulnar deviation vertical talus, phism of metacarpopha- metatarsus langeal joints, varus clenched hands Type 2A Freeman- Ulnar deviation at Club feet +/− Deep set Scoliosis, Mild short Normal, Sheldon metacarpopha- hip and knee eyes, Laryngo- stature Mild mental syndrome, langeal contractures hyper- malacia, retardation +/− or whistling joint, flexion of telorism, Pectus face fingers, and puckered excavatum syndrome metacarpopha- mouth, langeal joint of micrognathia thumb and long philtrum Type 2B Same as type 2A Vertical talus Triangular Cervical Normal Normal face with webbing pointed chin, downward palpebral slant Type 3 Gordon Proximal Talipes Cleft palate Hearing loss, Mild short Normal, syndrome interphalangeal equinovarus, short-neck, stature Mild mental joint contracture, toe scoliosis, retardation +/− limitation of contracture, pectus pronation, hip and patellar excavatum, supination, dislocation omphaloand elbow flexion coele Type 4 Same as type 3 Usually normal Normal Scoliosis, Normal Normal, torticollis, Mild mental fusion of retardation +/− cervical vertebra, renal anomalies
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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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CHAPTER 41 RENAL CYSTIC DISEASES 27
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Page 304 and 305: CHAPTER 43 POLYDACTYLY 287 Temtamy
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Page 308 and 309: CHAPTER 43 POLYDACTYLY 291 5. Holme
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Page 348 and 349: Part IX Miscellaneous Malformations
Page 350 and 351: 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
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Page 372 and 373: Chapter 51 Cystic Hygroma PRAVEEN K
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Page 380 and 381: Glossary of Genetic Terms A Acquire
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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
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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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