Human Malformations and Related Anomalies

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.

Autorentext

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.

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.

Inhalt

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 4.3 Klippel-Feil Anomaly 4.4 Segmentation Defects of the Vertebrae 4.5 Altered Vertebral Body Contour 4.6 Coronal Clefts of the Vertebrae 4.7 Coronal Clefts of the Vertebrae 4.8 Spondylolysis and Spondylolisthesis 4.9 Sacral Agenesis 4.10 Anomalies of the Ribs 4.11 Cervical Rib 4.12 Pectus Excavatum 4.13 Pectus Carinatum 4.14 Anomalies of the Sternum Chapter 5 Skull John M. Graham, Jr. and Pedro Sanchez-Lara Introduction 5.1 Craniosynostosis 5.2 Kleeblattschadel 5.3 Wide Cranial Sutures 5.4 Anomalies of Fontanelles 5.5 Parietal Foramina 5.6 Wormian Bones 5.7 Cranial Dermal Sinus 5.8 Scalp Vertex Aplasia 5.9 Thin Cranial Bones 5.10 Undermineralization of the Skull 5.11 Craniotabes 5.12 Thick Cranial Bones 5.13 Sclerosis and Hyperostosis of the Skull 5.14 Vertex Birth Molding 5.15 Breech Head and Bathrocephaly 5.16 Other Cranial Deformations 5.17 Anomalies of the Sella Turcica 5.18 Anomalies of the Foramen Magnum 5.19 Anomalies of Other Basal Foramina 5.20 Basilar Impression 5.21 Cephalohematoma 5.22 Miscellaneous Anomalies of the Skull Chapter 6 Facial Bones Karen Gripp Introduction 6.1 Metopic Synostosis 6.2 Orbital and Ocular Hypotelorism 6.3 Orbital and Ocular Hypertelorism 6.4 Zygomatic Hypoplasia 6.5 Absent Manidble 6.6 Congenital Asymmetry of Facial Skeleton 6.7 Micrognathia 6.8 Midface Retrusion and Hypoplasia 6.9 Midline Facial Clefting Chapter 7 Skin, Hair and Nails Mary Beth Dinulos Introduction 7.1 Aplasia Cutis Congenita 7.2 Ichthyosis 7.3 Ectodermal Dysplasias 7.4 Epidermolysis Bullosa 7.5 Cutaneous Hamartomas 7.6 Vascular Malformations 7.7 Pigmentation Abnormalities 7.8 Mosaicism 7.9 Epidermal Appendage Abnormalities 7.10 Disorders of Connective Tissue Chapter 8 Muscle Judith G. Hall Introduction 8.1a Hypertrophia Musculorum Vera 8.1b Kocher-Debre Semaalagne 8.1c Hyperekplexia 8.2 Generalized Decrease in Muscle Mass 8.3 Facial Muscle Deficiency 8.3a Deficiency of Extraocular Eye Muscles 8.3b Asymmetric Crying Face 8.3c Mobius Syndrome 8.3d Absence and Underdevelopment of the Tongue 8.3e Macroglossia 8.4 Diagraphagmatic Defect 8.5 Achalasia 8.6a Prune Belly Syndrome 8.6b Other Abdominal Wall 8.7a Poland Anomaly 8.7b Lower Limb Poland Anomaly 8.8 Other Muscle Hypoplasia 8.9a Muscle Variants 8.9b Muscle Variant Abnormalities Associated with Chromosomal Disorders 8.9c Accessory Muscles 8.9d Atavisms Chapter 9 Brain Alasdair G. W. Hunter Introduction 9.1 Microcephaly 9.2 Megalencephaly 9.3 Aprosencephaly-Atelencephaly 9.4 Holoprosencephaly 9.5 Malformations of Cortical Development 9.5a Lissencephaly 9.5b Pachygyria 9.5c polymicrogyria 9.5d Heterotopia 9.5e Focal Cortical Dysplasia 9.6 Agenesis of the Corpus Callosum 9.7 Cavum 9.8 Hydrocephalus 9.9 Colpocephaly 9.10 Hydranencephaly 9.11 Porencephaly 9.12 Cerebellar Abnormalities 9.13 Cystic Malformations 9.14 Chiari Malformations Chapter 10 Spinal Cord David Dyment Introduction 10.1 Primary Tethered Cord 10.2 Split Cord 10.3 Tailgut Cyst 10.4 Syringomelia 10.5 Myelocystocele 10.6 Meningocele 10.7 Neurenteric Malformation 10.8 Intraspinal Cysts Chapter 11 Brain and Spinal Cord Roger E. Stevenson Introduction 11.1 Anencephaly 11.2 Iniencephaly 11.3 Encephalocele 11.4 Spina Bifida Chapter 12 The Eye Elias I. Traboulsi, Shomoukh AlShamekh and Natario L. Couser Introduction 12.1 Anophthalmia 12.2 Microphthalmia and Typical Uveal Coloboma 12.3 Cyclopia and Synophthalmia 12.4 Cryptophthalmos 12.5 Blepharophimosis 12.6 Other Anomalies of the Eyelids 12.7 Corneal Malformations 12.8 Aniridia 12.9 Anterior Segment Dysgenesis 12.10 Peters Anomaly 12.11 Cataracts 12.12 persistent Hyperplastic Primary Vitreous 12.13 Optic Nerve Hypoplasia 12.14 Optic Pit 12.15 Morning Glory Disc Anomaly Chapter 13 External Ear Dorothy Katherine Grange Introduction 13.1 Absence of the External Ear 13.2 Small Ear 13.3 Large Ear 13.4 Cryptotia 13.5 Synotia and Otocephaly 13.6 Polyotia 13.7 Anomalies of the External Auditory Canal 13.8 Abnormal Ear Position 13.9 Lop-Cup Ear Anomaly 13.10 Protruding Ear 13.11 Variants of the Helix and Anthelix 13.12 Variants of the Ear Lobe 13.13 Auricular Tags 13.14 Auricular Pits 13.15 Ear Lobe Creases and Pits 13.16 Deformation of the Auricle Chapter 14 Middle Ear John D. Carey and Albert H. Park Introduction 14.1 Absence, Hypoplasia, and Malformations of the Malleus 14.2 Fusion Defects of the Malleus 14.3 Absenc…