"The definitive work in genetic evaluation of newborns. I cannot recommend it strongly enough." -Judith G. Hall
As demand continues to exceed availability when it comes to clinical geneticists, Genetic Consultations in the Newborn offers an essential new resource for practitioners everywhere: a streamlined diagnostic manual that connects subtle symptoms of newborn dysmorphology to their differential diagnosis.
Comprising more than 60 chapters organized by system and symptom, this book facilitates fast, expert navigation from recognition to management in syndromes that manifest during the newborn period. Richly illustrated and packed with pearls of practical wisdom from the authors' decades of practice, it empowers readers to recognize the outward signs and symptoms crucial for an effective diagnosis.
For geneticists, neonatologists, pediatricians, and anyone else who cares for infants in their first days of life, Genetic Consultations in the Newborn provides an essential and unmatched resource for navigating one of the most challenging areas of clinical practice. It should not be missed.
Arvustused
a really innovative, interesting and useful textbook ... a must to have for every expert people working in this field and for general practitioners too. * Concetta Simona Perrotta, European Journal of Human Genetics * Overall, it is a useful resource for practising neonatologists and the pediatricians requiring a genetic consultation for the care of infants with common congenital malformations and related genetic syndromes. I recommend this book as a quick reference for initiating a genetic workup especially in areas that do not have access to the clinical genetics expertise. * Neerja Gupta, The Indian Journal of Pediatrics *
| Preface |
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vii | |
| Acknowledgments |
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ix | |
| Abbreviations |
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xi | |
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Part I Common Issues in the Newborn |
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3 | (8) |
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2 Intrauterine Growth Restriction |
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11 | (6) |
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17 | (8) |
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25 | (6) |
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31 | (6) |
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37 | (12) |
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Part II Cardiovascular System |
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49 | (8) |
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57 | (6) |
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Part III Craniofacial System |
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63 | (6) |
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69 | (10) |
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79 | (6) |
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85 | (6) |
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91 | (12) |
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Part IV Central Nervous System |
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14 Macrocephaly and Megalencephaly |
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103 | (6) |
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109 | (6) |
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115 | (6) |
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121 | (6) |
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127 | (6) |
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133 | (6) |
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20 Perinatal Arterial Stroke |
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139 | (8) |
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Part V Gastrointestinal System |
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147 | (6) |
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153 | (4) |
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157 | (6) |
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24 Anorectal Malformations |
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163 | (4) |
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167 | (6) |
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Part VI Genitourinary System |
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26 Renal and Urinary Tract Anomalies |
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173 | (10) |
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183 | (8) |
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191 | (6) |
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197 | (6) |
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30 Upper Extremity Anomalies |
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203 | (8) |
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31 Lower Extremity Anomalies |
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211 | (6) |
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217 | (6) |
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223 | (8) |
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Part VIII Skeletal Dysplasias |
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34 Skeletal Dysplasias: Overview |
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231 | (4) |
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35 Skeletal Dysplasias: Life-Limiting |
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235 | (6) |
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36 Skeletal Dysplasias: Viable |
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241 | (8) |
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37 Skeletal Dysplasias: Fractures in Infancy |
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249 | (8) |
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38 Skin: Ectodermal Dysplasias |
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257 | (4) |
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39 Skin: Epidermolysis Bullosa |
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261 | (6) |
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267 | (6) |
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41 Skin: Vascular Malformations |
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273 | (4) |
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277 | (6) |
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Appendix: Syndromes That Commonly Present in the Newborn |
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283 | (78) |
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285 | (4) |
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289 | (4) |
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293 | (4) |
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297 | (4) |
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5S Wolf-Hirschhorn Syndrome |
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301 | (4) |
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6S Chromosome 5p Deletion Syndrome |
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305 | (4) |
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7S Chromosome 22q11.2 Deletion Syndrome |
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309 | (4) |
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313 | (4) |
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9S Beckwith--Wiedemann Syndrome |
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317 | (4) |
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321 | (4) |
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11S Cornelia de Lange Syndrome |
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325 | (4) |
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329 | (4) |
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13S Fetal Alcohol Spectrum Disorder |
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333 | (4) |
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14S Incontinentia Pigment! |
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337 | (4) |
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15S Prader--Willi Syndrome |
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341 | (4) |
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16S Noonan Syndrome and Related Disorders |
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345 | (4) |
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17S Smith--Lemli--Opitz Syndrome |
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349 | (4) |
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18S VATER/VACTERL Association |
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353 | (4) |
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357 | (4) |
| Index |
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361 | |
Robin D. Clark, MD, is Professor of Pediatrics in the Division of Medical Genetics at Loma Linda School of Medicine. She has more than 30 years' experience in the practice of clinical genetics, including expertise in dysmorphology, prenatal diagnosis, cytogenetics, and clinical cancer genetics. She trained in medical genetics at Harbor-UCLA Medical Center and in dysmorphology at the Institute for Child Health in London.
Cynthia J. Curry, MD, is Professor of Pediatrics, Emerita, at the University of California, San Francisco. She is an accomplished dysmorphologist and clinical geneticist with decades of experience in the evaluation of infants and children with both common and rare problems and malformations. She is an expert on the prenatal evaluation of abnormal fetal presentations and of stillborn infants. She developed the genetic services at Valley Children's Hospital in Madera, California, and at Community Regional Medical Center in Fresno, California.
