Congenital Diseases and Syndromes: An Illustrated Radiological Guide

Radiology 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 syndrome if possible or to reduce its severity. Although radiology offers very powerful tools for diagnosis, 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 definition, description, etiology, diagnostic criteria, main symptoms, and its typical diagnostic radiological features on the modern radiological modalities available today. Important clinical manifestations, rare radiological signs, gross pathological morphology, or special classifications are illustrated by using digital medical illustrations and digital photo manipulation.

Radiology is a visual science, and no matter how well-written the description of a sign, if you do not see the sign, it is usually difficult to identify it in a real situation. There is no clear-cut line that tells the junior radiologist which case is a specialized case and which case is a general congenital anomaly that he/she should be aware of. You can easily get caught up in details and be sidetracked when reading a big reference textbook. For example, if you want to study a case of dwarfism, you will find yourself reading about case one, which has a similarity to case two, that will refer you to case three, and so on.

In this book, the author tried to collect and illustrate many of the cases in which radiology plays an important diagnostic role. Moreover, this book provide congenital malformations that are commonly mentioned in the radiological board examinations, or can be faced occasionally in a busy radiological department. Some of the cases included are rare and considered to be specialty-related cases, but in my opinion they are interesting to know about.

The main goal of this book is to serve as a visual guide for radiology students and doctors interested in congenital diseases.

The book is not intended as a substitute for standard radiological textbooks or common reference texts. Readers who are interested in more details are kindly requested to refer to the selected references supplied or to any specialized medical textbook.

Contents

Chapter 1 The CNS

• 1.1 Anencephaly (Acrania)
• 1.2 Encephalocele
• 1.3 Holoprosencephaly
• 1.4 Hydranencephaly
• 1.5 Schizencephaly
• 1.6 Septo-optic Dysplasia (de Morsier Syndrome)
• 1.7 Corpus Callosum Dysgenesis
• 1.8 Gyral Abnormalities
• 1.9 Gray Matter Heterotopias
• 1.10 Arnold-Chiari Malformations
• 1.11 Dandy-Walker Malformation
• 1.12 Cavum Septum Pellucidum and Cavum Vergae
• 1.13 Fahr Disease
• 1.14 Menkes and Wilson Diseases
• 1.15 Cerebellar Anomalies

Chapter 2 The Head and Neck

• 2.1 Eagle Syndrome
• 2.2 Hyperostosis Frontalis Interna
• 2.3 Craniofacial Fibrous Dysplasia and Its Anomalies
• 2.4 Gardner Syndrome
• 2.5 Choanal Atresia
• 2.6 Congenital Cystic Lesions of the Head and Neck
• 2.7 External Auditory Canal Atresia
• 2.8 Congenital Anomalies of the Internal Ear (Congenital Hearing Loss)
• 2.9 Hearing Loss Syndromes
• 2.10 Petrous Bone Vascular Anomalies
• 2.11 Orbital Anomalies
• 2.12 Congenital Cholesteatoma

Chapter 3 The Chest and Heart

• 3.1 Azygos Fissure
• 3.2 Scimitar Syndrome (Hypogenic Lung Syndrome)
• 3.3 Horseshoe Lung
• 3.4 Poland Syndrome
• 3.5 Bronchiectasis
• 3.6 Osler-Weber-Rendu Syndrome (Hereditary Hemorrhagic Telangiectasia)
• 3.7 Aortic Arch Anomalies
• 3.8 Coronary Artery Anomalies
• 3.9 Rare Congenital Heart Anomalies

Chapter 4 The Abdomen and Pelvis

• 4.1 Heterotaxy Syndromes
• 4.2 Chilaiditi Syndrome
• 4.3 Meckel Diverticulum
• 4.4 Duodenal and Jejunoileal Atresias
• 4.5 Budd-Chiari Syndrome
• 4.6 Cruveilhier-Baumgarten Syndrome
• 4.7 Choledochal Cyst and Caroli Disease
• 4.8 Mirizzi Syndrome
• 4.9 Congenital Anomalies of the Spleen
• 4.10 Anomalies of the Inferior Vena Cava
• 4.11 Congenital Anomalies of the Kidneys
• 4.12 Congenital Uterine Malformations
• 4.13 Retrocaval Ureter
• 4.14 Hematocolpos
• 4.15 Alagille Syndrome (Arteriohepatic Dysplasia)

Chapter 5 The Musculoskeletal System

• 5.1 Basic Concepts in Bone Dysplasias
• 5.2 Congenital Radioulnar Synostosis
• 5.3 Klippel-Feil Syndrome (Blocked Cervical Vertebrae)
• 5.4 Spinal Dysraphism
• 5.5 Vertebral Clefts
• 5.6 Arcuate Foramen (Kimmerle Anomaly)
• 5.7 Supracondylar Process of the Humerus
• 5.8 Tarsal Coalition
• 5.9 Paget Disease (Ostitis Deformans)
• 5.10 Osteopetrosis (Albers-Schönburg Disease/Marble Bone Disease)
• 5.11 Mucopolysaccharidosis
• 5.12 Ollier Disease and Maffucci Syndrome
• 5.13 Osteogenesis Imperfecta
• 5.14 Caudal Regression Syndrome and Sirenomelia (Mermaid Syndrome)
• 5.15 Ellis-van Creveld Syndrome (Chondroectodermal Dysplasia)
• 5.16 SAPHO Syndrome (Anterior Chest Wall Syndrome)
• 5.17 Fong Disease and Nail-Patella Syndrome
• 5.18 Progeria (Hutchinson-Gilford Syndrome)
• 5.19 Tarlov Cyst
• 5.20 Madelung Deformity and Dyschondrosteosis (Léri-Weill Syndrome)

Chapter 6 Phakomatoses (Neurocutaneous Syndromes)

• 6.1 Neurofibromatosis
• 6.2 Sturge-Weber Syndrome (Encephalotrigeminal Angiomatosis)
• 6.3 Tuberous Sclerosis (Bourneville-Pringle Disease)
• 6.4 Neurocutaneous Melanosis
• 6.5 PHACE Syndrome
• 6.6 Von Hippel-Lindau Syndrome
• 6.7 Cowden Syndrome (Multiple Hamartoma-Neoplasia Syndrome)
• 6.8 Gorlin Syndrome (Basal Nevus Cell Carcinoma Syndrome)
• 6.9 Wyburn-Mason Syndrome

Index

About the Editors

• Dr. Jarrah Ali Al-Tubaikh, Universitätsklinikum München, Klinikum Großhadern, Institut für Klinische Radiologie, Marchioninistr. 15, 81377 München, Germany. Email: Tabeebjarah@hotmail.com
• Prof. Dr. Maximilian F. Reiser, FRCR, FACR, Universitätsklinikum München, Klinikum Großhadern, Institut für Klinische Radiologie, Marchioninistr. 15, 81377 München, Germany. Email: mreiser@med.uni-muenchen.de

Product Details

• Hardcover: 218 pages
• Publisher: Springer; 1 edition (August 6, 2009)
• Language: English
• ISBN-10: 3642001599
• ISBN-13: 978-3642001598
• Product Dimensions: 10.4 x 7.8 x 0.7 inches

List Price: $189.00