Smiths Recognizable Patterns of Human Malformation
(Sprache: Englisch)
The completely revised and updated New Edition of this definitive textnow in full color! Long known as the source to consult for guidance on diagnosis, prognosis, plan management, and genetic counseling, this easy-to-use reference focuses on the patterns of...
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The completely revised and updated New Edition of this definitive textnow in full color! Long known as the source to consult for guidance on diagnosis, prognosis, plan management, and genetic counseling, this easy-to-use reference focuses on the patterns of human defects caused by inborn errors in morphogenesis as opposed to defects caused by mechanical problems. It provides a wealth of information on normal and abnormal morphogenesis minor anomalies and their relevance clinical approaches to specific diagnoses and normal standards of measurement for the entire spectrum of disorders. Each chapter includes a description of the specific abnormalityincluding occasional associated abnormalitiesnatural history, etiology, and references. On opposing pages are several descriptive photographs and line drawings of either an individual with the abnormality or specific features of the abnormality.
The completely revised and updated New Edition of this definitive text—now in full color! Long known as the source to consult for guidance on diagnosis, prognosis, plan management, and genetic counseling, this easy-to-use reference focuses on the patterns of human defects caused by inborn errors in morphogenesis as opposed to defects caused by mechanical problems. It provides a wealth of information on normal and abnormal morphogenesis * minor anomalies and their relevance * clinical approaches to specific diagnoses * and normal standards of measurement for the entire spectrum of disorders. Each chapter includes a description of the specific abnormality—including occasional associated abnormalities — natural history, etiology, and references. On opposing pages are several descriptive photographs and line drawings of either an individual with the abnormality or specific features of the abnormality.
REVIEW OF THE LAST EDITION:
"This volume is an invaluable reference for all those engaged in the areas of genetics, dysmorphology, pediatrics, and internal medicine. Dr. Jones should be congratulated for perpetuating this great book....A magnificent contribution to the field." Archives of Pediatrics & Adolescent Medicine
Features Provides over 1,450 photographs and illustrations to depict each malformation — many from the personal collections of Drs. Smith and Jones — to aid readers in diagnosis.Uses a consistent chapter format to help readers quickly and easily find information on any given disorderOffers the most current coverage available on existing disorders and their molecular basis, plus the very latest information on virtually any genetic or physiological malformation.
What's New
Offers a clearer understanding of abnormalities through the use of more than 1,000 new full-color figures and photographs.Includes updates for every disorder, with extensive new information on the molecular basis of malformations as well as new clinical information for many disorders.Covers 16 additional commonly seen disorders, including Deletion 1p36 syndrome
- Deleletion 22q13 syndrome
- Meier-Gorlin Syndrome
- Short Syndrome
- 3-C Syndrome
- GAPO Syndrome
- Lenz Microphthalmia Syndrome
- Muenke Craniosynostosis
- Torriello-Carey Syndrome
- Mandibulo-Acral Syndrome
- Mowat-Wilson Syndrome
- Ulnar-Mammary Syndrome
- Kaufman-McKusick Syndrome
- Smith-Maginess Syndrome
- Wiedeman-Rautenstrauch Syndrome
- and Shprintzen-Golberg Syndrome.
Presents a wealth of new Growth Charts, plus complete revisions to existing Growth Charts
REVIEW OF THE LAST EDITION:
"This volume is an invaluable reference for all those engaged in the areas of genetics, dysmorphology, pediatrics, and internal medicine. Dr. Jones should be congratulated for perpetuating this great book....A magnificent contribution to the field." Archives of Pediatrics & Adolescent Medicine
Features Provides over 1,450 photographs and illustrations to depict each malformation — many from the personal collections of Drs. Smith and Jones — to aid readers in diagnosis.Uses a consistent chapter format to help readers quickly and easily find information on any given disorderOffers the most current coverage available on existing disorders and their molecular basis, plus the very latest information on virtually any genetic or physiological malformation.
What's New
Offers a clearer understanding of abnormalities through the use of more than 1,000 new full-color figures and photographs.Includes updates for every disorder, with extensive new information on the molecular basis of malformations as well as new clinical information for many disorders.Covers 16 additional commonly seen disorders, including Deletion 1p36 syndrome
- Deleletion 22q13 syndrome
- Meier-Gorlin Syndrome
- Short Syndrome
- 3-C Syndrome
- GAPO Syndrome
- Lenz Microphthalmia Syndrome
- Muenke Craniosynostosis
- Torriello-Carey Syndrome
- Mandibulo-Acral Syndrome
- Mowat-Wilson Syndrome
- Ulnar-Mammary Syndrome
- Kaufman-McKusick Syndrome
- Smith-Maginess Syndrome
- Wiedeman-Rautenstrauch Syndrome
- and Shprintzen-Golberg Syndrome.
Presents a wealth of new Growth Charts, plus complete revisions to existing Growth Charts
Inhaltsverzeichnis zu „Smiths Recognizable Patterns of Human Malformation “
1. Recognizable Patterns of Malformation- A. Chromosomal Abnormality Syndromes
- B. Very Small Stature, Not Skeletal DysplasiaC. Moderate Short Stature, Facial, +/- GenitalD. Senile-Like AppearanceE. Early Overgrowth with Associated Defects
- F. Unusual Brain and/or Neuromuscular Findings With Associated DefectsG. Facial Defects As Major FeatureH. Facial-Limb Defects as Major FeatureI. Limb Defect as Major Feature
- J. OsteochondrodysplasiasK. Osteochondrodysplasia with OsteopetrosisL. Craniosynostosis SyndromesM. Other Skeletal DysplasiasN. Storage Disorders
- O. Connective Tissue DisordersP. HamartosesQ. Ectodermal DysplasiasR. Enviornmental AgentsS. Miscellaneous SyndromesT. Miscellaneous SequencesU. Spectra Of DefectsV. Miscellaneous Associations
2. Approaches to Categorical Problems of Growth Deficiency,
- Mental Deficiency, Arthrogryposis, Ambiguous External
- Genitalia
3. Morphogenesis and Dysmorphogenesis
4. Genetics, Genetic Counseling, and Prevention
5. Minor Anomalies as Clues to More Serious Problems and Toward
- the Recognition of Malformation Syndromes
6. Normal Standards
Autoren-Porträt von Kenneth Lyons Jones
Kenneth Lyons Jones, MD,Professor of Pediatrics; Chief, Division of Dysmorphology and Teratology, University of California, San Diego, School of Medicine, La Jolla, CA
Bibliographische Angaben
- Autor: Kenneth Lyons Jones
- 2005, 6. A., XVIII, 954 Seiten, 1450 Schwarz-Weiß-Abbildungen, Maße: 19,7 x 26,9 cm, Gebunden, Englisch
- Herausgegeben: Kenneth Lyons Jones
- Verlag: Saunders
- ISBN-10: 0721606156
- ISBN-13: 9780721606156
Sprache:
Englisch
Rezension zu „Smiths Recognizable Patterns of Human Malformation “
REVIEW OF THE LAST EDITION: "This volume is an invaluable reference for all those engaged in the areas of genetics, dysmorphology, pediatrics, and internal medicine. Dr. Jones should be congratulated for perpetuating this great book....A magnificent contribution to the field."-Archives of Pediatrics & Adolescent Medicine
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