Human malformations and related anomalies / / edited by Roger E. Stevenson ... [et al.]

• Pubblicazione: Oxford ; ; New York, : Oxford University Press, 2006
• Edizione: 2nd ed.
• Descrizione fisica: 1 online resource (xiv, 1495 pages) : illustrations
• Disciplina: 616/.043
• Soggetto topico: Abnormalities, Human
• Altri autori: StevensonRoger E. <1940->
• Note generali: Previous edition: 1993.; Previously issued in print: 2005.
• Nota di bibliografia: Includes bibliographical references and index.
• Nota di contenuto: Intro -- Contents -- Contributors -- Part I-Overview -- 1. Human Malformations and Related Anomalies -- 1.1 Nomenclature -- 1.2 Classification and Coding -- 1.3 Genetic Causes of Malformations -- 1.4 Gene Mutations and Malformations -- 1.5 Environmental Causes of Malformations -- 1.6 Human Anomalies with Unknown Causes -- 1.7 Detection, Diagnosis, Evaluation, Management -- 1.8 Discussions with the Family -- Part II-Cardiorespiratory Organs -- 2. Heart -- 2.1 Heterotaxy -- 2.2 Single Ventricle -- 2.3 Conotruncal Defects -- 2.4 Atrioventricular Septal Defects -- 2.5 Right Ventricular Outfow Tract Obstructive Defects -- 2.6 Left Ventricular Outfow Tract Obstructive Defects -- 2.7 Atrial Septal Defects -- 2.8 Ventricular Septal Defects -- 2.9 Anomalies of the Pulmonary Veins -- 2.10 Abnormal Systemic Venous Connections -- 2.11 Anomalies of the Ductus Arteriosus -- 2.12 Aortopulmonary Window (Aortopulmonary Septal Defect) -- 2.13 Anomalies of the Coronary Arteries -- 2.14 Anomalies of the Pericardium -- 3. Systemic Vasculature -- 3.1 Interrupted Aortic Arch -- 3.2 Right Aortic Arch -- 3.3 Cervical Aortic Arch -- 3.4 Double Aortic Arch -- 3.5 Double-Lumen Aortic Arch -- 3.6 Incidental Anomalies of the Aortic Arch -- 3.7 Innominate Artery Variants -- 3.8 Subclavian Artery Variants -- 3.9 Patent Ductus Arteriosus -- 3.10 Coarctation of the Aorta -- 3.11 Persistent Left Superior Vena Cava -- 3.12 Inferior Vena Cava Variants -- 3.13 Miscellaneous Venous Variants -- 3.14 Deep Vein Abnormalities -- 3.15 Vascular Malformations -- 4. Lymphatic System -- 4.1 Primary Lymphatic Anomalies -- 4.2 Pulmonary Lymphangiectasia -- 4.3 Fetal Cystic Hygroma -- 4.4 Lymphangioma -- 4.5 Lymphangioleiomyomatosis -- 5. Spleen -- 5.1 Polyasplenia -- 5.2 Positional Alterations of the Spleen -- 5.3 Accessory Spleens, Structural Variation, and Fusion to Other Organs. ; 6. Lower Respiratory Organs -- 6.1 Bifid Epiglottis -- 6.2 Laryngeal Atresia, Webs, and Stenosis -- 6.3 Laryngotracheoesophageal Cleft -- 6.4 Tracheal Agenesis -- 6.5 Tracheal Stenosis -- 6.6 Congenital Tracheal Cartilaginous Sleeve -- 6.7 Tracheoesophageal Fistula -- 6.8 Pulmonary Agenesis/Aplasia -- 6.9 Congenital Cystic Adenomatoid Malformation -- 6.10 Congenital Lobar Emphysema -- 6.11 Primary Pulmonary Hypoplasia -- 6.12 Congenital Diaphragmatic Hernia -- Part III-Craniofacial Structures -- 7. Skull -- 7.1 Craniosynostosis -- 7.2 Kleeblattschädel -- 7.3 Wide Cranial Sutures -- 7.4 Anomalies of Fontanels -- 7.5 Cranial Dermal Sinus -- 7.6 Parietal Foramina (Includes Cranium Bifidum) -- 7.7 Wormian Bones -- 7.8 Scalp Vertex Aplasia -- 7.9 Thin Cranial Bones -- 7.10 Undermineralization of the Skull -- 7.11 Craniotabes -- 7.12 Thick Cranial Bones -- 7.13 Sclerosis and Hyperostosis of the Skull -- 7.14 Vertex Birth Molding -- 7.15 Breech Head (Bathrocephaly) -- 7.16 Other Cranial Deformations Due to Abnormal Fetal Presentation -- 7.17 Anomalies of the Sella Turcica -- 7.18 Anomalies of Foramen Magnum -- 7.19 Anomalies of the Other Basal Foramina and Canals -- 7.20 Basilar Impression -- 7.21 Cephalhematoma and Caput Succedaneum -- 7.22 Miscellaneous Anomalies of the Skull -- 8. Facial Bones -- 8.1 Premature Metopic Sutural Synostosis -- 8.2 Orbital Hypotelorism -- 8.3 Orbital Hypertelorism -- 8.4 Midline Facial Skeletal Clefting -- 8.5 Absence and Hypoplasia of the Zygoma -- 8.6 Midface Retrusion and Hypoplasia -- 8.7 Agnathia -- 8.8 Micrognathia -- 8.9 Congenital Asymmetry of the Facial Skeleton -- 9. Eye -- 9.1 Anophthalmia -- 9.2 Microphthalmia and Typical Uveal Coloboma -- 9.3 Cyclopia and Synophthalmia -- 9.4 Cryptophthalmos -- 9.5 Blepharophimosis -- 9.6 Other Anomalies of the Eyelids -- 9.7 Congenital Corneal Anomalies. ; 9.8 Anterior Segment Dysgenesis -- 9.9 Peters Anomaly -- 9.10 Hypoplasia of the Iris (Aniridia) -- 9.11 Congenital Cataracts -- 9.12 Persistent Hyperplastic Primary Vitreous or Persistence of the Fetal Vasculature -- 9.13 Optic Nerve Hypoplasia -- 9.14 Morning Glory Disc Anomaly -- 9.15 Optic Pit -- 10. Ear -- External Ear -- 10.1 Microtia/Anotia -- 10.2 Small Ear -- 10.3 External Auditory Canal Stenosis and Atresia Without Microtia -- 10.4 Cryptotia -- 10.5 Large Ear (Macrotia) -- 10.6 Polyotia -- 10.7 Duplication of the External Auditory Meatus -- 10.8 Synotia/Otocephaly -- 10.9 Low-set Ears -- 10.10 Posteriorly Rotated Ears -- 10.11 Lop/Cup Ear Anomaly -- 10.12 Protruding Ear -- 10.13 Stahl Ear -- 10.14 Mozart Ear -- 10.15 Darwinian Tubercle -- 10.16 Prominent Crus of the Helix -- 10.17 Lobular Defects -- 10.18 Auricular Tags -- 10.19 Auricular Pits -- 10.20 Ear Lob Creases/Pits -- 10.21 Deformation of the Auricle -- Middle Ear -- 10.22 Hypoplasia/Aplasia/Malformation of the Malleus -- 10.23 Fusion Defects of the Malleus -- 10.24 Hypoplasia/Aplasia/Malformation of the Incus -- 10.25 Fusion Defects of the Incus -- 10.26 Hypoplasia/Aplasia/Malformation of the Stapes -- 10.27 Congenital Fixation of the Stapes -- 10.28 Absence of the Oval Window -- 10.29 Congenital Cholesteatoma -- 10.30 Persistence of the Stapedial Artery -- 10.31 Highly Placed Jugular Bulb -- Inner Ear -- 10.32 Vestibular Dysplasias -- 10.33 Prelingual Hearing Loss -- 11. Nose -- 11.1 Arhinia -- 11.2 Unilateral Arhinia, Heminasal Aplasia -- 11.3 Small Nose -- 11.4 Nostril Coloboma -- 11.5 Bifid Nose -- 11.6 Nostril Atresia -- 11.7 Choanal Atresia -- 11.8 Polyrrhinia -- 11.9 Proboscis -- 11.10 Noses of Distinction -- 11.11 Deviation of the Nasal Septum -- 11.12 Turbinate Deformity -- 11.13 Arrhinencephaly -- 11.14 Hemangioma of the Nose -- 11.15 Dermoid Cyst of the Nose. ; 11.16 Glioma of the Nose -- 11.17 Encephalocele Involving the Nose -- 12. Lips -- 12.1 Median Cleft Lip -- 12.2 Cleft Lip With or Without Cleft Palate (CL/P) -- 12.3 Cleft Palate -- 13. Tongue -- 13.1 Aglossia, Hypoglossia, Microglossia -- 13.2 Absence of Lingual Frenulum -- 13.3 Macroglossia -- 13.4 Bifid Tongue -- 13.5 Fissured Tongue, Scrotal Tongue, Lingua Plicata -- 13.6 Glossopalatine Ankylosis (Ankyloglossum Superius) -- 13.7 Ankyloglossia: Tongue-tie, Partial Ankyloglossia, Total and Lateral Ankyloglossia -- 13.8 Median Rhomboid Glossitis -- 13.9 Double Tongue -- 13.10 Lingual Thyroid -- 13.11 Choristoma of Tongue: Enterogenous Cyst of Tongue -- 13.12 Choristoma of Tongue: Epidermoid Cyst of Tongue -- 13.13 Choristoma of Tongue: Cyst Lined with Respiratory Epithelium or Nonciliated Columnar Epithelium -- 13.14 Choristoma of Tongue: Brain Tissue in Tongue -- 13.15 Choristoma of Tongue: Chondroma and Osteoma -- 13.16 Congenital Dermoid Cyst -- 13.17 Hamartoma: Lymphangioma of the Tongue -- 13.18 Hamartoma of the Tongue: Hemangioma -- 13.19 Hamartoma of the Tongue: Mixed Type (Mesenchymoma) -- 13.20 Congenital Teratoma -- 13.21 Abnormal Tongue Movements and Excessive Mobility of the Tongue -- 13.22 Pigmented Fungiform Papillae and Other Lingual Pigmentations -- 14. Teeth -- 14.1 Tooth Agenesis -- 14.2 Supernumerary Teeth -- 14.3 Microdontia -- 14.4 Macrodontia -- 14.5 Abnormalities of Tooth Shape -- 14.6 Dental Malocclusion -- 14.7 Enamel Dysplasia -- 14.8 Dentin Dysplasia -- 14.9 Cementum Dysplasia -- 14.10 Abnormalities of Tooth Eruption -- Part IV-Neuromuscular Systems -- 15. Brain -- 15.1 Microcephaly -- 15.2 Megalencephaly -- 15.3 Aprosencephaly/Atelencephaly -- 15.4 Holoprosencephaly -- 15.5 Malformations of Cortical Development: Disorders of Neuronal and Glial Formation, Migration, and Maturation. ; Lissencephaly, Pachygyria, Polymicrogyria, Heterotopias,Ectopias,and Cortical Dysplasis -- 15.6 Agenesis of the Corpus Callosum -- 15.7 Cavum, Cysts, and Absence of the Septum Pellucidum and Cavum Vergae -- 15.8 Hydrocephalus -- 15.9 Colpocephaly -- 15.10 Hydranencephaly -- 15.11 Porencephaly -- 15.12 Cerebellar Anomalies -- 15.13 Cystic Malformations -- 15.14 Chiari Malformations -- 16. Brain and Spinal Cord -- 16.1 Disorders of Neural Tube Closure -- 17. Spinal Cord -- 17.1 Primary Tethered Cord -- 17.2 Neurenteric Malformations -- 17.3 Intraspinal (Nonneurenteric) Cysts -- 17.4 Syringomyelia -- 17.5 Split Cord Malformation (Diastematomyelia) and Diplomyelia -- 17.6 Myelocystocele -- 17.7 Anterior and Lateral Meningoceles -- 17.8 Tailgut Cyst -- 18. Muscle -- 18.1 Generalized Abnormalities of Muscle Mass: Increased Muscle Mass -- 18.2 Generalized Abnormalities of Muscle Mass: Decreased Muscle Mass -- 18.3 Localized Abnormalities of Muscle -- 18.4 Aglossia -- 18.5 Facial Muscle Deficiency -- 18.6 Asymmetric Crying Facies -- 18.7 Deficiency of Eye Muscles -- 18.8 Deficiency of Esophageal Muscles -- 18.9 Defects of Pectoralis Muscles and Other Muscles of the Shoulder Girdle -- 18.10 Poland Anomaly -- 18.11 Poland-Möbius Syndrome -- 18.12 Poland-Like Gluteal-Lower Leg Anomaly -- 18.13 Prune Belly Syndrome -- 18.14 Isolated Deficiency of Abdominal Muscles -- 18.15 Diaphragmatic Defects -- 18.16 Variations with Accessory Muscle Tissue -- 18.17 Muscle Atavisms -- 18.18 Muscle Abnormalities Associated with Chromosomal Disorders -- Part V-Skeletal System -- 19. Pectoral Girdle, Spine, Ribs, and Pelvic Girdle -- 19.1 Clavicular Hypoplasia/Aplasia -- 19.2 Clavicular Pseudarthrosis -- 19.3 Altered Shape and Other Abnormalities of the Clavicle -- 19.4 Sprengel Anomaly -- 19.5 Glenoid Hypoplasia -- 19.6 Anomalies of the Sternum. ; 19.7 Pectus Excavatum/Pectus Carinatum.
• Sommario/riassunto: The central theme of this text is to provide information on individual anomalies & to connect these anomalies to the malformation syndromes & associated problems, primarily through the use of differential diagnostic tables.
• Titolo autorizzato: Human malformations and related anomalies
• ISBN: 0-19-770716-5; 1-280-53290-4; 0-19-974808-X; 1-4294-0341-1
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Lingua di pubblicazione: Inglese
• Record Nr.: 9910823313103321
• Lo trovi qui: Univ. Federico II
• Serie: Oxford monographs on medical genetics ; ; no. 52.