Human Malformations and Related AnomaliesRoger E. Stevenson, Judith G. Hall This widely acclaimed reference work gives a comprehensive survey of all significant human malformations and related anomalies from the perspective of the clinician. The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. When known, the molecular or other pathogenetic basis for the malformation is given. Most anomalies are illustrated by photographs or drawings. Specific malformations are linked to syndromes through the extensive use of differential diagnosis tables. Over a decade has passed since the first edition of this book was published, and the revised edition fully incorporates the advances made in the field during the intervening years.. It reflects new understanding of human developmental biology that has emerged from molecular, cytogenetic, and biochemical studies; new observations by clinicians as well as enhanced diagnostic and prevention capacities; and more accurate and comprehensive epidemiology. By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. Stevenson and Hall and their contributors have managed to update the book while reducing its size to that of a single volume. All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information. |
Contents
Part IICardiorespiratory Organs | 83 |
Part IIICraniofacial Structures | 219 |
Part IVNeuromuscular Systems | 467 |
Part VSkeletal System | 803 |
Part VIGastrointestinal and Related Structures | 1021 |
Part VIIUrogenital System Organs | 1159 |
Part VIIIOther Systems and Structures | 1305 |
| 1473 | |
| 1477 | |
Other editions - View all
Human Malformations and Related Anomalies Roger E. Stevenson,Judith G. Hall No preview available - 2006 |
Common terms and phrases
abnormalities absence agenesis anomalies aortic arch aplasia artery asplenia associated atresia atrial autosomal dominant autosomal recessive bilateral Birth Defects bone brain cardiac defects Causation Gene/Locus cause cells choristomas chromosome cleft lip cleft palate Clin Genet clinical coloboma congenital heart cranial craniofacial craniosynostosis cystic cysts deletion developmental delay diagnosis disease disorders dysplasia Etiology and Distribution facial fetal fetus fontanel gene growth hearing loss heart defects holoprosencephaly Hum Genet hypertelorism hypoplasia hypoplastic infants lesions limb lymphangioma lymphatic lymphedema malformations maternal mental retardation microcephaly micrognathia microphthalmia microtia midline multiple mutations nasal bridge normal nose occur ocular Ophthalmol optic optic nerve hypoplasia Oral palpebral patients Pediatr phenotype polydactyly posterior postnatal pregnancy prenatal Prognosis prominent pulmonary radiograph renal reported septal defect short stature situs situs inversus skeletal spleen stenosis Surg surgical sutures syndactyly syndrome synostosis teeth tissue tongue tooth trisomy Unknown valve variable vascular ventricular ventricular septal defect X-linked