Congenital malformations - Edocr

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CHAPTER 40 HORSESHOE KIDNEY 263 TABLE 40–1 Syndromes Associated with Horseshoe Kidney Syndrome Other Common Clinical Features Etiology Fanconi pancytopenia Short stature, microcephaly, eye anomalies, radial Autosomal recessive syndrome ray defects in upper limbs, pancytopenia, brownish pigmentation of skin, cardiac, GI and CNS anomalies Goltz syndrome Poikiloderma with focal dermal hypoplasia, sparse X-Linked dominant and brittle hair, dystrophic nails, syndactyly and sporadic and other anomalies of hand/feet, eye colobomas, heart defects Kabuki syndrome Long palpebral fissures with eversion of the lateral Unknown portion of lower eyelid, ptosis, cleft palate, brachydactyly, rib anomalies, cardiac defects, prominent fingertip pads Pallister-Hall IUGR, hypothalamic harmartoblastoma, ear Autosomal dominant syndrome anomalies, laryngeal cleft, lung agenesis, syndactyly, polydactyly, anal anomalies, heart defects Roberts-SC Hypomelia limb reduction defects of both upper Autosomal recessive phocomelia and lower limbs midfacial defects such as cleft lip and palate, microcephaly, severe IUGR, cryptorchidism, eye anomalies Trisomy 13 Holoprosencephaly, microphthalmia, cyclopia, Trisomy (Patau syndrome) microcephaly, cleft lip and palate, heart defects, IUGR, genital abnormalities Trisomy 18 IUGR, low-set malformed ears, clenched hand, Trisomy (Edwards heart defects, rocker bottom feet, microcephaly, syndrome) genital anomalies Turner syndrome IUGR, lymphedema, broad chest with widely spaced Monosomy X nipples, small maxilla and mandible, low hairline, webbed neck, redundant skin, heart defects, hearing impairment VACTERL Vertebral, anal, cardiac, tracheal, esophageal, Unknown, more association renal and limb anomalies, single umbilical artery, frequently seen spinal dysraphia, genital abnormalities in infants of diabetic mothers GI, gastrointestinal; CNS, central nervous system; IUGR, intrauterine growth retardation. should receive antibiotic prophylaxis pending a complete evaluation. Routine urine analysis, serum chemistries with blood urea nitrogen, and serum creatinine are necessary to assess and follow renal function. No other intervention is necessary in asymptomatic patients in absence of any complications. All infants should undergo a complete physical examination to evaluate for any other associated <strong>malformations</strong> particularly cutaneous markers of occult spinal dysraphism and anorectal atresia/rectal fistulas. X-ray of the spine and cardiac echo should be considered. Routine karyotype is not necessary unless indicated by the presence of other systemic <strong>malformations</strong>. Although horseshoe kidney has been reported in family members, there is no recommendation for screening family members at present.
264 PART VII RENAL MALFORMATIONS PROGNOSIS The presence of a horseshoe kidney by itself has not been shown to adversely affect survival and is only rarely a cause for mortality. 3 In neonates with horseshoe kidney, mortality, and long-term outcome are largely determined by the presence and prognosis of associated congenital anomalies and syndromes. Many different malignancies have been reported in horseshoe kidneys. The commonest tumor reported is renal cell carcinoma although its incidence is reported to be no higher than that in the general population. 1,10 A twofold increased risk of Wilms tumor is reported in patients with a horseshoe kidney. 2,11 But the National Wilms Tumor Study Group (NWTSG) estimates the risk of Wilms tumor development at
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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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Page 232 and 233: Part 6 Gastrointestinal Malformatio
Page 234 and 235: 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 250 and 251: Chapter 36 Hirschsprung Disease PRA
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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
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Page 278 and 279: Chapter 40 Horseshoe Kidney PRAVEEN
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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 308 and 309: CHAPTER 43 POLYDACTYLY 291 5. Holme
Page 310 and 311: Chapter 44 Syndactyly PRAVEEN KUMAR
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Page 316 and 317: Chapter 45 Limb Reduction Defects P
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313 Chondrodysplasia X-linked Short
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CHAPTER 46 SKELETAL DYSPLASIAS 315
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CHAPTER 46 SKELETAL DYSPLASIAS 317
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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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