The Man Behind the Syndrome

The Man Behind the Syndrome
Author: Peter Beighton
Publisher: Springer Science & Business Media
Total Pages: 256
Release: 2012-12-06
Genre: Medical
ISBN: 1447114159

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The Man Behind the Syndrome by my friends and colleagues Peter and Greta Beighton is a delightful book which will be read eagedy and with keen intellectual pleasure by all human, medical, and dinical genetieists. The reader with a historical tum of mind will note right away that the book achieyes more than the usual entry in a dictionary of seientific biography. In addition to the standard professional data, it gives a photo and some personal glimpses of the man, allowing the reader to appreeiate his human qualities as weIl. This volume contains, so to speak, the creme de la creme, namely, those in a group whose names are daily on the lips of every practicing dinical geneticist. This interesting and instructive book is commended to all in medical genetics and the history of medieine with the highest enthusiasm and gratitude to its authors for undertaking this labor of love. A second volume is planned for more recently delineated disorders for which an eponym is not yet widely used.

Sclerosing Bone Dysplasias

Sclerosing Bone Dysplasias
Author: P. Beighton
Publisher: Springer Science & Business Media
Total Pages: 193
Release: 2012-12-06
Genre: Medical
ISBN: 144711292X

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Much confusion exists in the accurate identification and classification of the many disorders in infancy which affect the skeleton by producing sclerosing lesions throughout the entire skeleton or in selected areas. A scholarly effort to bring order into this confusing field must be welcomed. Professors Beighton and Cremin have skillfully defined the problem and concisely yet thoroughly have identified the various sclerosing dysplasias. They bring to this task a wealth of clinical experience in their many years in the Departments of Radiology at the University of Cape Town Medical School and the Groote Schuur and Red Cross Children's Hospitals in Cape Town, South Africa. The authors also have had available data from the University of Cape Town Skeletal Dysplasia Registry. Professors Beighton and Cremin have used as a basis for their treatise the Paris Nomenclature (the modified version of 1977). This monograph is a felicitous combination of a working atlas and a scholarly exposition of the various sclerosing bone dysplasias, considering in detail eighteen major entities adopted from the Paris classification. Other disorders which present with osteosclerosis are also described. These include Caffey disease, oculodento-osseous dysplasia, central osteosclerosis with bamboo hair, fluorosis, osteosclerosis associated with renal disease and mastocytosis.

Hereditary Hearing Loss and Its Syndromes

Hereditary Hearing Loss and Its Syndromes
Author: Helga V. Toriello
Publisher: Oxford University Press
Total Pages: 749
Release: 2013-08-08
Genre: Medical
ISBN: 0199731969

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This is the third edition of the foremost medical reference on genetic hearing loss, updated to include new information on molecular mechanisms. It is an excellent resource for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and for clinical training programs and researchers in hearing sciences.

Syndromes of the Head and Neck

Syndromes of the Head and Neck
Author: Robert J. Gorlin
Publisher: Oxford University Press
Total Pages: 1332
Release: 2001-09-27
Genre: Medical
ISBN: 0199747725

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This classic text, one of the true anchors of our clinical genetics publishing program, covers over 700 different genetic syndromes involving the head and neck, and it has established itself as the definitive, comprehensive work on the subject. The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. The authors are recognized leaders in the field, and their vast knowledge and strong clinical judgment will help readers make sense of this complex and burgeoning field. Dr. Gorlin retires as editor in this edition and co-editor Raoul Hennekam takes over. Dr. Hennekam is regarded as one of the top dysmorphologists--and indeed one of the top clinical geneticists--in the world. Judith Allanson is new to the book but is a veteran OUP author and a widely respected geneticist, and Ian Krantz at Penn is a rising star in the field. Dr. Gorlin's name has always been closely associated with the book, and it has now become part of the title. As in all fields of genetics, there has been an explosion in the genetics of dysmorphology syndromes, and the author has undertaken a complete updating of all chapters in light of the discoveries of the Human Genome Project and other ongoing advances, with some chapters requiring complete rewriting. Additional material has been added both in terms of new syndromes and in updating information on existing syndromes. The book will appeal to clinical geneticists, pediatricians, neurologists, head and neck surgeons, otolarynologists, and dentists. The 4th edition, which published in 2001, has sold 2,600 copies.

Neuroradiology - Expect the Unexpected

Neuroradiology - Expect the Unexpected
Author: Martina Špero
Publisher: Springer
Total Pages: 183
Release: 2018-05-28
Genre: Medical
ISBN: 3319734822

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This book presents a selection of unusual neuroradiology cases, each documented with a short medical history, CT and MRI images, and one page with clinical features and radiological findings. A total of 25 rare and peculiar cases were selected from the authors’ clinical experience. Over time, the authors witnessed several of these cases – for which there is little or no information in the international literature – being misinterpreted, especially by residents, general radiologists who occasionally have to deal with neuroradiology cases, or young neuroradiologists. Written by experienced practitioners, this atlas, with its thoroughly documented collection of rare neuroradiological cases, represents a valuable clinical tool for young radiologists and will encourage them to “think outside the box” and successfully find the correct diagnosis.

Pediatric X-ray Diagnosis

Pediatric X-ray Diagnosis
Author: John Caffey
Publisher:
Total Pages: 896
Release: 1972
Genre: Medical
ISBN:

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