Human Malformations and Related AnomaliesRoger E. Stevenson, Judith G. Hall Oxford University Press, 2005 M10 27 - 1520 pages 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. |
From inside the book
Results 1-5 of 88
Page 5
... deletion that has not been detected with current technology cannot be excluded. Hence, the causes of these conditions will remain unknown until one of these possi- bilities or another alternative is confirmed and the possible cause or ...
... deletion that has not been detected with current technology cannot be excluded. Hence, the causes of these conditions will remain unknown until one of these possi- bilities or another alternative is confirmed and the possible cause or ...
Page 16
... Deletion of a representative chromosomal band would leave the individual with only a single copy ( hemizygosity ) for 30 to 40 genes rather than the normal two copies of each ( Fig . 1-3 ) . Deleterious recessive characteristics , if ...
... Deletion of a representative chromosomal band would leave the individual with only a single copy ( hemizygosity ) for 30 to 40 genes rather than the normal two copies of each ( Fig . 1-3 ) . Deleterious recessive characteristics , if ...
Page 18
... Deletions 123,152-157 A deletion is the loss of a portion of a chromosome ( Fig . 1-4 ) . Deletions can affect a single gene , being submicroscopic and re- quiring molecular techniques for detection , or may be large enough to be seen ...
... Deletions 123,152-157 A deletion is the loss of a portion of a chromosome ( Fig . 1-4 ) . Deletions can affect a single gene , being submicroscopic and re- quiring molecular techniques for detection , or may be large enough to be seen ...
Page 19
... Deletion Xp22.3 Xp21 Deletion Xp21 Wilms tumor, aniridia, genitourinary anomalies, mental retardation Dysmorphic facial features, infantile hypercalcemia, congenital heart disease, premature aging of the skin, gregarious personality ...
... Deletion Xp22.3 Xp21 Deletion Xp21 Wilms tumor, aniridia, genitourinary anomalies, mental retardation Dysmorphic facial features, infantile hypercalcemia, congenital heart disease, premature aging of the skin, gregarious personality ...
Page 20
... deletion chromosomes, one of which is acentric and one dicentric. The- oretically, one-half of the gametes produced by a carrier of a balanced paracentric inversion would be unbalanced, having one of these two duplication-deletion ...
... deletion chromosomes, one of which is acentric and one dicentric. The- oretically, one-half of the gametes produced by a carrier of a balanced paracentric inversion would be unbalanced, having one of these two duplication-deletion ...
Contents
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 |
Index to Tables of Malformations and Associated Syndromes | 1473 |
Subject Index | 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