Human Malformations and Related Anomalies - Benjamin D. Solomon, David B. Everman, Judith G. Hall | Consegna Gratis
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Human Malformations and Related Anomalies

Human Malformations and Related Anomalies
titolo Human Malformations and Related Anomalies
autori , , ,
argomenti Medicina Genetica Malattie genetiche
Medicina Genetica
Medicina
editore Oxford University Press Inc
formato Libro
pagine 1000
pubblicazione 2015
ISBN 9780199386031
18app Carta del docente Acquistabile con bonus 18app o Carta del docente
 
325,00 308,75 (-5%)
 
Disponibilità immediata

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.

 

Indice testuale

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 Absence, Hypoplasia and Malformation of the Incus ; 14.4 Fusion Defects of the Incus ; 14.5 Absence, Hypoplasia and Malformation of the Stapes ; 14.6 Congenital Fixation of the Stapes ; 14.7 Absence of the Oval Window ; 14.8 Congenital Cholesteatoma ; 14.9 Persistence of the Stapedial Artery ; 14.10 Highly Placed Jugular Bulb ; Chapter 15 Inner Ear ; Eloise J. Prijoles ; Introduction ; 15.1 Inner Ear ; 15.2 Prelingual Hearing Loss ; Chapter 16 Nose ; Margaret P. Adam ; Introduction ; 16.1 Absent Nose ; 16.2 unilateral Arhinia ; 16.3 Small Nose ; 16.4 Cleft Ala Nasi ; 16.5 Bifid Nose ; 16.6 Choanal Atresia ; 16.7 Supernumerary Nares ; 16.8 Proboscis ; 16.9 Minor Anomalies of the Nose ; 16.10 Nasal Tooth ; 16.11 Deviation of the Nasal Septum ; 16.12 Turbinate Deformity ; 16.13 Arhinencephaly ; 16.14 Encephalocele Involving the Nose ; Chapter 17 Lips ; Marilyn Jones ; Introduction ; 17.1 Median Cleft Lip ; 17.2 Cleft Lip with or without Cleft Palate ; 17.3 Cleft Palate ; Chapter 18 Tongue ; Michael I. Cunningham ; Introduction ; 18.1 Absence and Underdevelopment of the Tongue ; 18.2 Macroglossia ; 18.3 Absence of Lingual Frenulum ; 18.4 Ankyloglossia ; 18.5 Glossopalatine Ankylosis ; 18.6 Supernumerary Tongue ; 18.7 Bifid Tongue ; 18.8 Fissured Tongue, Scrotal Tongue, Lingua Plicata ; 18.9 Median Rhomboid Glossitis ; 18.10 Pigmented Fungiform Papillae of the Tongue ; 18.11 Choristoma of the Tongue ; 18.12 Lymphangioma of the Tongue ; 18.13 Hemangioma of the Tongue ; 18.14 Mixed Hamartoma of the Tongue ; 18.15 Teratoma of the Tongue ; 18.16 Lingual Thyroid ; Chapter 19 Teeth ; Hitesh Kapadia ; Introduction ; 19.1 Absence of One or More Teeth ; 19.2 Macrodontia ; 19.3 Microdontia ; 19.4 Supernumerary Teeth ; 19.5 Abnormalities of Tooth Shape ; 19.6 Enamel Dysplasia ; 19.7 Dentin Dysplasia ; 19.8 Abnormalities of Tooth Eruption ; 19.9 Dental Malocclusion ; Chapter 20 Heart ; Paul Stephen

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