The third edition of Human Malformations and Related Anomalies is a comprehensive reference and clinical guide to significant human malformations. Authored by 40 authorities in genetics and dysmorphology, this streamlined new edition offers an authoritative and richly illustrated guide to clinical presentation, associated anomalies, treatment, and prognosis.
The third edition of Human Malformations and Related Anomalies is a tribute to the host of clinicians and scientists worldwide who, through their observations and laboratory findings, have helped us better understand the embryological anarchy that leads to structural birth defects. Their keenness in clinical phenotyping and application of technological advances have coalesced into a formidable force for diagnosis and discovery.
The reader will immediately notice the new format for the malformation entries. The narrative text is reduced and duplication of syndrome descriptions eliminated by capturing certain essential information in an atrium at the beginning of each entry and an appendix with short descriptive vignettes on the numerous syndromes with associated malformations. Since the late 1950s, several generations of cytogenetic and biochemical technologies served as the major workhorses in the search for the heritable causes of malformations and related anomalies. They have now been replaced or supplemented with molecular technologies. The combination of numerous genetic probes into one assay utilizing the technique of array comparative genomic hybridization (aCGH) has yielded genome-wide DNA microarrays. In addition to explaining the causes of clinically recognized contiguous gene syndromes such as deletion 22q11.2, microarrays have been useful for studying patients with novel or unrecognizable malformation syndromes that result from rare copy number variants.
“A distinctively valuable resource on the shelf of any neonatal unit for the generosity of its core information.” –Archives of Diseases in Childhood
“This book will be of great help to clinical geneticists. Highly recommended.” –European Journal of Human Genetics
About the Author
Judith G. Hall, MD, is Professor Emerita of Pediatrics and Medical Genetics at the University of British Columbia based at Children’s & Women’s Health Centre of British Columbia in Vancouver.
David B. Everman, MD, is an Associate Clinical Geneticist at Greenwood Genetic Center in Greenville, South Carolina.
Benjamin D. Solomon, MD, is Chief of the Division of Medical Genomics at the Inova Translational Medicine Institute and Associate Professor of Pediatrics at the Virginia Commonwealth University School of Medicine.
۲ HANDS AND FEET
۳ PECTORAL AND PELVIC GIRDLES
۴ SPINE AND THORACIC CAGE
۶ FACIAL BONES
۷ SKIN, HAIR, AND NAILS
۱۰ SPINAL CORD
۱۱ BRAIN AND SPINAL CORD
۱۲ THE EYE
۱۳ EXTERNAL EAR
۱۴ MIDDLE EAR
۱۵ INNER EAR
۱۷ LIPS AND PALATE
۱۸ THE TONGUE
۲۱ SYSTEMIC VASCULATURE
۲۲ LYMPHATIC SYSTEM
۲۴ THE LOWER RESPIRATORY ORGANS
۲۵ VENTRAL WALL OF THE TRUNK
۲۶ UPPER GASTROINTESTINAL TRACT
۲۷ SMALL AND LARGE INTESTINES
۲۸ RECTUM AND ANUS
۲۹ LIVER, GALL BLADDER, AND PANCREAS
۳۰ THE URINARY TRACT
۳۱ MALE GENITAL SYSTEM
۳۲ FEMALE GENITAL SYSTEM
۳۴ ASYMMETRIC GROWTH AND GENERALIZED 0
۳۶ UMBILICAL CORD AND PLACENTA
لینک کوتاه : https://bookbaz.ir/?p=28865
نویسنده : Roger E. Stevenson , Judith G. Hall
ناشر : Oxford University Press; 3 edition
سال انتشار : 2015
زبان کتاب : انگلیسی
نوع فایل : PDF
تعداد صفحات : 1001
(ISBN) شابک : 019938603X
قیمت کتاب درآمازون : $318.77
حجم فایل : 43 MB