By Jarrah Ali Al-Tubaikh, Maximilian F Reiser
Congenital illnesses and Syndromes – An Illustrated Radiological Guide is designed to serve the radiologist as an easy-to-use visible advisor that illustrates the common diagnostic radiological good points of the commonest congenital illnesses and syndromes. The publication is organised in keeping with physique process, with chapters targeting the CNS, the top and neck, the chest and middle, the stomach and pelvis, and the musculoskeletal approach. a last bankruptcy is dedicated to phacomatoses. every one syndrome or affliction is illustrated by way of a number of photos in addition to by way of top quality electronic clinical illustrations depicting these radiological indicators which are tough to observe. The reader is thereby familiarised with a few of the congenital anomalies from the radiological standpoint. furthermore, etiology, diagnostic standards, and major signs are defined, and capability differential diagnoses highlighted. This e-book might be immensely precious for junior radiologists, radiology scholars, and medical professionals in any distinctiveness who're attracted to congenital malformations and syndromes.
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Additional resources for Congenital Diseases and Syndromes
Current diagnosis and transoral surgical treatment if eagle's syndrome. J Oral Maxillofac Surg 2005; 63:1742–1745 3. Mendelson AH et al. Heterogeneity in the clinical presentation of eagle's syndrome. 2 Signs on CT Bilateral, almost symmetrical increased thickening of the inner surface of the frontal bone (Fig. 2). Hyperostosis frontalis interna (HFI) is a benign normal variant of unknown cause characterized by increased thickness of the trabecular bone of the inner vault of the skull affecting the frontal bone.
Axial CT image of another case of DWM with dolichocephaly. The fourth ventricle communicates with a posterior fossa cyst making a “keyhole configuration” Fig. 3. Axial CT image of another case of DWM shows posterior fossa cyst that communicates with a dilated fourth ventricle (open arrow) via a hypoplastic/aplastic cerebellar vermis (white arrowhead ). Note the small cerebellar right hemisphere (white arrow) Dandy-Walker Variants and Mimickers Fig. 4. MR venography illustration shows high torcular herophili (arrowhead ) with ascending straight sinus that becomes horizontal as it joins the torcular herophili (arrow) A Dandy-Walker variant (DWV) is a term reserved for posterior fossa malformations that do not fulfill the classical description of DWM.
Although both diseases occur due to abnormal copper metabolism, they have different clinical presentations. Menkes Disease (Kinky Hair Disease) Menkes disease is a progressive, neurodegenerative, X-linked disease characterized by defective copper metabolism that results from poor or no absorption of copper from the intestine, with maldistribution of the copper within the body organs. This maldistribution causes defects in the functions of the numerous coppercontaining enzymes in different organs.