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By Jarrah Ali Al-Tubaikh, Maximilian F Reiser

ISBN-10: 3642001599

ISBN-13: 9783642001598

Congenital illnesses and Syndromes – An Illustrated Radiological Guide is designed to serve the radiologist as an easy-to-use visible consultant that illustrates the common diagnostic radiological positive aspects of the commonest congenital ailments and syndromes. The booklet is organised in accordance with physique approach, with chapters concentrating on the CNS, the top and neck, the chest and center, the stomach and pelvis, and the musculoskeletal process. a last bankruptcy is dedicated to phacomatoses. every one syndrome or affliction is illustrated via a number of pictures in addition to by way of fine quality electronic clinical illustrations depicting these radiological symptoms which are tough to realize. The reader is thereby familiarised with many of the congenital anomalies from the radiological viewpoint. moreover, etiology, diagnostic standards, and major indicators are defined, and capability differential diagnoses highlighted. This ebook should be immensely important for junior radiologists, radiology scholars, and medical professionals in any forte who're drawn to congenital malformations and syndromes.

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Fig. 1. Axial T1-weighted MR illustration shows rhombencephalosynapsis. Note the absence of the cerebellar vermis with fusion of both cerebellar hemispheres, with the “keyhole-shaped” fourth ventricle Joubert Syndrome Signs on MRI ¼ Absence or severely hypoplastic cerebellar vermis, with fusion of both cerebellar hemispheres. ¼ The fourth ventricle has a characteristic “keyhole appearance” due to the fusion of the cerebellar peduncles and inferior colliculi (Fig. 1). Joubert syndrome (JS) is a neuronal migration disorder of the cerebellum characterized by hypoplasia or agenesis of the superior cerebellar vermis, enlargement of the fourth ventricle, and cystic lesions of the viscera.

Kim OH et al. Intracranial and extracranial MR angiography in Menkes disease. Pediatr Radiol 1997;27:782–784 9. Bekiesinska-Figatowska M et al. Menke’s disease with Dandy-Walker variant: Case report. Neuroradiology 2001; 43:948–950 Chest and Heart Abdomen and Pelvis Musculoskeletal System Phakomatoses Fig. 1. Axial abdominal noncontrast-enhanced CT illustration shows liver contour irregularity, with multiple hyperdense nodules. 15 Cerebellar Anomalies Anomalies of the cerebellum are usually associated with other lesions of the posterior fossa.

These respiratory abnormalities are thought to be caused by dysfunction of the respiratory centers in the medulla oblongata. JS is the only posterior fossa anomaly associated with respiratory abnormalities. 12 C ongenital Cholesteatoma 64 J. A. Al-Tubaikh, M. F. 1 Eagle Syndrome Eagle syndrome (ES) is a disease characterized by cervicofacial pain caused by elongation of the styloid process, which occurs due to extensive ossification of the stylohyoid ligament (Fig. 1). ES is noted to occur in some patients with a previous history of tonsillectomy.

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Congenital Diseases and Syndromes by Jarrah Ali Al-Tubaikh, Maximilian F Reiser

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