Fundamentals of Craniofacial Malformations

Fundamentals of Craniofacial Malformations

Author: Ulrich Meyer

Publisher: Springer Nature

Published: 2021-06-24

Total Pages: 393

ISBN-13: 303046024X

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This is the first volume in an interdisciplinary three-book series covering the full range of biological, clinical, and surgical aspects in the evaluation, diagnosis, and treatment of patients with craniofacial malformations. This volume opens by considering general topics such as developmental biology and disease classification and then examines in depth the biological basis of the various malformations, including craniosynostoses, cleft-lip and palate with complex orofacial clefts, branchio-oculo-facial syndromes, rare syndromes, soft tissue malformations, and dysgnathia. Psychological aspects, including psychological evaluation methods and therapies and quality of life issues, are then addressed. Finally, all relevant clinical, radiological, and genetic investigations are described and important diagnostic issues are explored. Featuring numerous high-quality illustrations, the book will be of high value for all clinicians, researchers, and postgraduate students who deal with these malformations. The accompanying two volumes describe treatment principles and present in an atlas manner all relevant surgical techniques in detail. The content of this multivolume set, written by the world’s leading research and clinical specialists in their discipline, represents therefore the recent intellect, experience, and state of this medical field.


Neonatal Head and Spine Ultrasonography

Neonatal Head and Spine Ultrasonography

Author: Andrea Poretti

Publisher: Springer

Published: 2015-11-04

Total Pages: 175

ISBN-13: 3319145681

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This book discusses the key features of normal, age-dependent neonatal head ultrasonography as well as the findings of the most common neonatal neurological disorders as visualized by this modality. Neonatal head ultrasound is an important diagnostic tool in the initial evaluation of intracranial abnormalities in newborns. Head ultrasound is a safe and cost-efficient tool for detecting brain abnormalities in preterm and term neonates, monitoring the progression of brain lesions, and describing the maturation of the developing neonatal brain. To facilitate its use at the bedside, the book is organized by clinical findings and their differential diagnoses. For each disorder, a clinical vignette describing the clinical presentation of the newborn is accompanied by high-quality ultrasound images that depict the abnormal findings and detailed explanations of these findings. This book is a succinct guide to neonatal head ultrasonography for neuroradiologists, neonatologists, and pediatricians.


Syndromes: Rapid Recognition and Perioperative Implications

Syndromes: Rapid Recognition and Perioperative Implications

Author: Bruno Bissonnette

Publisher: McGraw-Hill Education / Medical

Published: 2006-08-10

Total Pages: 988

ISBN-13:

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Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.


The Chromosome 22q11.2 Deletion Syndrome

The Chromosome 22q11.2 Deletion Syndrome

Author: Donna M. McDonald-McGinn

Publisher: Academic Press

Published: 2022-08-19

Total Pages: 526

ISBN-13: 0128160489

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The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the etiology, prognosis, and recurrence risk associated with the chromosome 22q11.2 deletion syndrome. Leading international contributors cover the background, genetics, testing methods, and pathophysiology of 22q11.2DS, placing emphasis on a strong foundation for multidisciplinary treatment strategies. Written by specialists in every applicable subspecialty, such as, cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology, neurology, and psychiatry, among other fields. This book presents an authoritative resource with full color images that enhance concept illustration and aid in real-time decision-making. As 22q11.2 deletion syndrome has become a model for understanding rare and frequent anomalies, numerous medical issues, cognitive and behavioral phenotypes, and later onset conditions, this text will become the go to resource for clinicians, researchers, trainees, and motivated family members, in gaining a full understanding of this complex chromosomal disorder. Provides a complete description of 22q11.2 deletion syndrome for healthcare professionals, researchers, trainees, and families affected by this common condition Presents diagnostic and treatment strategies to help tackle this complex and often undiagnosed and therefore undertreated condition Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest clinical experience and research in the field Features leading international contributors in numerous sub-specialties, representing the multisystem nature of this condition Includes full color figures, flow charts, tables, and patient images to guide real-time decision-making