دانلود کتاب ناهنجاری بشر و ناهنجاری های مرتبط
Human Malformations and Related Anomalies, 3ed

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.

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Contents

۱ LIMBS
۲ HANDS AND FEET
۳ PECTORAL AND PELVIC GIRDLES
۴ SPINE AND THORACIC CAGE
۵ SKULL
۶ FACIAL BONES
۷ SKIN, HAIR, AND NAILS
۸ MUSCLE
۹ BRAIN
۱۰ SPINAL CORD
۱۱ BRAIN AND SPINAL CORD
۱۲ THE EYE
۱۳ EXTERNAL EAR
۱۴ MIDDLE EAR
۱۵ INNER EAR
۱۶ NOSE
۱۷ LIPS AND PALATE
۱۸ THE TONGUE
۱۹ TEETH
۲۰ HEART
۲۱ SYSTEMIC VASCULATURE
۲۲ LYMPHATIC SYSTEM
۲۳ SPLEEN
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
۳۳ BREASTS
۳۴ ASYMMETRIC GROWTH AND GENERALIZED 0
۳۵ TWINS
۳۶ UMBILICAL CORD AND PLACENTA