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Zusatztext This book will be of great help to clinical geneticists. Highly recommended. Informationen zum Autor Roger E. Stevenson, MD, is Senior Clinical Geneticist at Greenwood Genetic Center in Greenwood, South Carolina. 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. Klappentext 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. Zusammenfassung 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. Inhaltsverzeichnis Introduction Roger E. Stevenson and Judith G. Hall Chapter 1 Limbs Roger E. Stevenson Introduction 1.1 Limb Deficiency 1.1a Absence of Limb 1.1b Absent Radius 1.1c Absent Ulna 1.1d Absent Humerus 1.1e Absence and Hypoplasia of the Tibia 1.1f Absent Fibula 1.1g Absence and Hypoplasia of the Femur 1.1h Terminal Transverse Limb Deficiency 1.2 Synostosis 1.2a Carpal and Tarsal Coalition 1.2b Metacarpophalangeal and Metatarsophalangeal Synostosis 1.2c Proximal Symphalangism 1.2d Distal Symphalangism 1.2e Humeroradial Synostosis 1.2f Radioulnar Synostosis 1.2g Tibiofibular Synostosis 1.2h Sirenomelia 1.3 Constriction Rings 1.4 Duplications, Excessive Partitions, and Accessory Bones 1.5 Bowing of Long Bones 1.6 Short Stature 1.7 Tall Stature 1.8 Limb Overgrowth 1.9 Increased Bone Density 1.10 Decreased Bone Density 1.11 Osteolysis 1.12 Anomalies of the Patella 1.13 Arthrogryposis 1.13a Amyoplasia 1.13b Distal arthrogryposis 1.13c Fetal akinesia phenotype 1.13d Pterygium syndromes Chapter 2 Hands/Feet David B. Everman Introduction Polydactyly 2.1a Preaxial Polydactyly 2.1b Postaxial Polydactyly 2.1c Mesoaxial Polydactyly Syndactyly 2.2a Syndactyly Type I 2.2b Syndactyly Type II 2.2c Syndactyly Type III 2.2d Syndactyly Type IV 2.2e Syndactyly Type V 2.2f Cenani-Lenz Syndactyly 2.2g Symbrachydactyly Brachydactyly 2.3a Brachydactyly Type A1 2.3b Brachydactyly Type A2 2.3c Brachydactyly Type A3 2.3d Brachydactyly Type B 2.3e Brachydactyly Type C 2.3f Brachydactyly Type D 2.3g Brachydactyly Type E Deficiency 2.4a Preaxial Deficiency 2.4b Postaxial Deficiency 2.5 Terminal Transverse Deficiency 2.6 Split-Hand-Foot Malformation 2.7 Macrodactyly 2.8 Camptodactyly 2.9 Clubfoot Chapter 3 Pectoral and Pelvic Girdles Louanne Hudgins and Neda Zadeh Introduction 3.1 Clavicular Hypoplasia/Aplasia 3.2 Clavicular Pseudoarthrosis 3.3 Altered Shape and Other Abnormalities of the Clavicle 3.4 Sprengel Anomaly 3.5 Glenoid Hypoplasia 3.6 Anomalies of the Pelvic Bone 3.7 Developmental Dysplasia of the Hip 3.8 Coxa Vara 3.8 Coxa Valga Chapter 4 Spine and Ribs Louanne Hudgins and Neda Zadeh Introduction 4.1 Occipitalization of the Atlas 4.2 Aplasia/Hypoplasia of the Odontoid Process of the Axis 4...
