This book is designed to serve the radiologist as an easy-to-use visual guide that illustrates the typical diagnostic radiological features of the most common congenital diseases and syndromes. Chapters are organised according to body system, and focus on the CNS, the head and neck, the chest and heart, the abdomen and pelvis, and the musculoskeletal system. A final chapter is devoted to phacomatoses. Each syndrome or disease is illustrated by multiple images as well as by high-quality digital medical illustrations depicting those radiological signs that are difficult to detect. The reader is…mehr
This book is designed to serve the radiologist as an easy-to-use visual guide that illustrates the typical diagnostic radiological features of the most common congenital diseases and syndromes. Chapters are organised according to body system, and focus on the CNS, the head and neck, the chest and heart, the abdomen and pelvis, and the musculoskeletal system. A final chapter is devoted to phacomatoses. Each syndrome or disease is illustrated by multiple images as well as by high-quality digital medical illustrations depicting those radiological signs that are difficult to detect. The reader is thereby familiarised with the various congenital anomalies from the radiological point of view. In addition, etiology, diagnostic criteria, and main symptoms are described, and potential differential diagnoses highlighted. This book will be immensely useful for junior radiologists, radiology students, and doctors in any specialty who are interested in congenital malformations and syndromes.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.
CNS: Anencephaly. Encephaloceles. Holoprosencephaly. Hydraencephaly. Schizencephaly. Septo-optic dysplasia. Corpus callosum dysgenesis. Gyral abnormalities. Grey matter heterotopias. Arnold-Chiari malformations. Dandy-Walker anomaly. Cavum septum pellucidum and cavum vergae. Fahr's syndrome. Menkes and Wilson diseases. Cerebellar anomalies.- Head and neck: Eagle syndrome. Hyperostosis frontalis interna. Craniofacial fibrous dysplasia and its anomalies. Gardner syndrome. Choanal atresia. Congenital cystic lesions of the head and neck. External auditory canal atresia. Congenital hearing loss anomalies. Hearing loss syndromes. Petrous bone vascular anomalies. Orbital anomalies. Congenital cholesteatoma.- Chest and heart: Azygos fissure. Scimitar syndrome. Horseshoe lung. Poland syndrome. Bronchiectasis syndromes. Osler-Weber-Rendau syndrome. Aortic arch anomalies. Coronary arteries anomalies. Rare congenital heart anomalies.- Abdomen and pelvis: Heterotaxy syndromes. Cheladiti syndrome. Meckele's diverticulum. Duodenal atresia. Budd-Chiari syndrome. Cruveilhier-Baumgarten syndrome. Carolis's disease. Mirizzi syndrome. Anomalies of the spleen. Inferior vena cava anomalies. Anomalies of the kidney. Uterine anomalies. Retrocaval ureter. Hematocolpos. Alagille syndrome.- Musculoskeletal system: Basics of bone dysplasia. Congenital radioulnar synostosis. Klipple-Feil anomaly. Spinal dysraphism. Vertebral clefts. Arcuate foramen. Supracondylar process. Tarsal coalition. Paget's disease. Osteopetrosis and Dysosteosclerosis. Mucopolyssachridosis. Ollier and Maffucci syndromes. Osteogenesis imperfecta. Caudal regression syndrome and sirenomelia. Ellis Van Cerveld syndrome (chondroectodermal dysplasia). SAPHO syndrome. Fong's syndrome. Progeria. Tarlov cyst. Madelung's deformity and dyschondrosteosis.- Phakomatoses. Neurofibromatosis. Struge weber syndrome. Tuberous sclerosis. Neurocutaneous melanosis. PHACE syndrome. von Hipple Lindau disease. Cowden disease. Gorlin's disease. Wyburn-Mason syndrome.
From the reviews: "The aim of the book is to present to the reader, in a concise, easy to read and easy to reference style the results of years of research in the field of congenital diseases and syndromes. ... Each topic is concisely and precisely described, illustrated by well chosen radiological images ... plus a very short reference list for further reading are included. ... is recommended reading for clinicians as well as radiologists." (Giampiero Beluffi, La Radiologica Medica, Vol. 115, 2010)
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