Congenital Malformation Syndromes
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Color Atlas Of Congenital Malformation Syndromes
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Author : Michael Baraitser
language : en
Publisher: Mosby Elsevier Health Science
Release Date : 1996
Color Atlas Of Congenital Malformation Syndromes written by Michael Baraitser and has been published by Mosby Elsevier Health Science this book supported file pdf, txt, epub, kindle and other format this book has been release on 1996 with Medical categories.
The vast amount of genetic research has added to the list of clinically recognized syndromes, identification of which can cause enormous problems for those non-specialist geneticists. This book provides a colour atlas, covering these syndromes. The concise, authoritative text is combined with over 900 full-colour illustrations, providing a visual aid in the pattern recognition of clinical features.
Multiple Congenital Anomalies
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Author : Robin M. Winter
language : en
Publisher: Springer
Release Date : 2013-12-20
Multiple Congenital Anomalies written by Robin M. Winter and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-12-20 with Medical categories.
The size of the problem, can be assessed This book is an off-shoot of the computerized from the following. Of 50 children bom, 1 London Dysmorphology Database which is now widely used by many geneticists and will have an easily detectable major malfor mation. Many of these will have a single dysmorphologists. Both the database and this malformation, but in the region of 8 in 1000 book have arisen out of a need to cope with the ever increasing nurober of multiple will have multiple abnormalities. This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and where infor mation can be found in the Iiterature. Indeed rest needing tobe diagnosed by other means. there are more than 2000 non-chromosomal It is to the diagnosis of this latter group that this book is dedicated. multiple malformation syndromes to which access is essential. If computerized databases have solved THE DIAGNOSIS OF DYSMORPHIC some of the problems, why is there a need SYNDROMES for this book? There are many physicians who do not have a desk computer or do not History feel at ease in using one. In addition geneticists are doing more satellite clinics and Before identifying the specific dysmorphic in some circumstances it would be more features, at least a three generation family history needs to be taken. It is necessary to convenient to carry a book than a computer.
Congenital Malformation Syndromes
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Author : D. Donnai
language : en
Publisher: CRC Press
Release Date : 1998-09-04
Congenital Malformation Syndromes written by D. Donnai and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 1998-09-04 with Medical categories.
This title provides an addition to the study of muliple congenital anomaly syndromes. It consists of a series of in-depth review articles on 73 congenital malformation syndromes covering newly described syndromes along side ones where threre has been significant advances in knowledge recently. Each article focuses on the range of physical and developmental effects of the syndromes history and the underlying biological mechanisms.
Congenital Diseases And Syndromes
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Author : Jarrah Ali Al-Tubaikh
language : en
Publisher: Springer Science & Business Media
Release Date : 2009-06-13
Congenital Diseases And Syndromes written by Jarrah Ali Al-Tubaikh and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009-06-13 with Medical categories.
Radiology to me is an art more than a science; an art of imaging the human body, and an art of extracting information from an image. Radiology today is a vital specialty that almost no other medical specialty can work without. Congenital anomalies and syndromes are complex subjects in all medical specialties. They require knowledge of the normal anatomy and of the embryological basis of organogenesis. The importance of recognizing a congenital malformation or an anomaly, which can be the tip of an iceberg of a more complex syndrome, is to prevent future manifestations of a s- drome if possible or to reduce its severity. Due to this concept, I had an interest in studying how to use the radiological modalities in diagnosing congenital malfor- tions as early as possible. Although radiology offers very powerful tools for diag- sis, the basics of medicine are still the main tools to be used for diagnosis. History, observation, clinical examination, and laboratory investigations are essential elements for diagnosis, which need to be used before radiology investigations are initiated. The idea of this book is based on a simple principle: it is to link radiology to these basic medical tools. The book is written for junior radiologists, radiology students, and doctors interested in congenital malformations and syndromes in any specialty. Each disease is represented with a de? nition, description, etiology, diagnostic cri- ria, main symptoms, and its typical diagnostic radiological features on the modern radiological modalities available today.
Malformation Syndromes
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Author : Daniel Bergsma
language : en
Publisher: Elsevier Publishing Company
Release Date : 1975
Malformation Syndromes written by Daniel Bergsma and has been published by Elsevier Publishing Company this book supported file pdf, txt, epub, kindle and other format this book has been release on 1975 with Medical categories.
Congenital Malformations Evidence Based Evaluation And Management
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Author : Praveen Kumar
language : en
Publisher: McGraw Hill Professional
Release Date : 2007-11-06
Congenital Malformations Evidence Based Evaluation And Management written by Praveen Kumar and has been published by McGraw Hill Professional this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007-11-06 with Medical categories.
A concise, clinically-focused guide to the evaluation and management of infants with congenital malformations Congenital Malformations is a comprehensive, practical text that highlights key perspectives on the medical management of infants with malformations. With its convenient system-based organization and evidence-based approach, this clinically-focused guide is designed to optimize the utilization of limited diagnostic resources. Easy-to-follow algorithms and tables enable you to rapidly identify and manage the many different malformations that commonly present in clinical practice, such as cleft lip, cardiac septal defects, and skeletal dysplasias. Features: Succinct, high-yield coverage allows for efficient review of the most common malformations Evidence-based orientation provides up-to-date, clinically relevant diagnostic and treatment recommendations that are based on a meticulous review of the scientific literature Consistent templated format delivers easily accessible information on: Epidemiology/Etiology Clinical Presentation Associated Malformations and Syndromes Evaluation Management and Prognosis Genetic counseling Organized by malformation rather than syndrome - for a clear, easy-to-follow diagnostic guide
A Dictionary Of Congenital Malformations And Disorders
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Author : J. Gibson
language : en
Publisher: CRC Press
Release Date : 2020-07-26
A Dictionary Of Congenital Malformations And Disorders written by J. Gibson and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-07-26 with Medical categories.
This is a complete, medically reliable dictionary of congenital malformations and disorders. As the authors explain, Down syndrome is the only common congenital disorder; the other defects and disorders are rare or very rare, some having been reported fewer than 20 times worldwide.This dictionary covers them all. Examples: Aagenaes syndrome is due to congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant-cell hepatitis with fibrosis of the portal tracts. Acrocallosal syndrome is characterized by total or partial absence of the corpus callosum, craniofacial dysmorphism, polydactyly, and severe mental retardation. Other features can be retinal pigmentation anomalies, optic atrophy, strabismus, nystagmus, cleft lip and palate, cardiovascular anomalies, hernia, abnormal nipples, and fits. Acrodysostosis is characterized by prenatal growth deficiency, brachycephaly, de formities of the humerus, radius and ulna, short and broad hands, hypoplastic maxilla, and mental retardation.
Congenital Hand Anomalies And Associated Syndromes
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Author : Ghazi M. Rayan
language : en
Publisher: Springer
Release Date : 2014-08-20
Congenital Hand Anomalies And Associated Syndromes written by Ghazi M. Rayan and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-08-20 with Medical categories.
Physicians often have only partial knowledge of common congenital hand and upper extremity anomalies and their associated syndromes. Surgeons typically find these syndromes to be abstruse and congenital hand conditions can represent an enigma even to pediatric geneticists. This book is designed to serve as a practical, up-to-date reference that will enable practitioners and students in a variety of disciplines to easily recognize the most common congenital upper extremity anomalies and syndromes. In total, 37 congenital upper extremity anomalies and 127 syndromes are discussed. Salient and common presenting features are described in detail and illustrated with the aid of high-quality digital color photographs whenever possible. In addition, relevant background information is included on such aspects as prevalence, etiology, pathogenesis and findings elsewhere in the body.
Congenital Malformations Of The Head And Neck
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Author : Lisa M. Elden
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-12-02
Congenital Malformations Of The Head And Neck written by Lisa M. Elden and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-12-02 with Medical categories.
Congenital Malformations of the Head and Neck offers a unique conceptual and visual approach to children with congenital malformations of the head and neck. Developed by renowned leaders in the field, this title is richly illustrated with a wealth of patient photos, radiology and endoscopic images of malformations. Starting with the genetics of common congenital syndromes, Congenital Malformations of the Head and Neck goes on to comprehensively cover malformations of the ear, nose, nasopharynx, oral cavity, oropharynx, cleft lip and palate, larynx, trachea, and neck. Easy-to-read and an indispensable reference and teaching resource, this title will serve as an invaluable reference for clinicians, neurologists, pediatricians, otolaryngologists and head and neck surgeons. It should also be of great interest to fellows and residents.
The Bedside Dysmorphologist
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Author : William Reardon
language : en
Publisher:
Release Date : 2008
The Bedside Dysmorphologist written by William Reardon and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008 with Abnormalities, Human categories.
Dysmorphology is the study of congenital malformations and is one of the core areas of clinical genetics. Often the first professional seeing these birth defects is a pediatrician, who notices, for example, that the ears may be rather low set. While in itself minor, this physical sign may indicate a malformation that will be accompanied by other serious genetic disorders. Does the sign, or does it not, indicate an underlying syndrome? That question is often quite difficult to answer, and the texts that may aid in diagnosis are highly sophisticated and rather daunting for the practicing pediatrician. The aim of Reardon's new text is to provide a practical solution to this situation.