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 beneficial properties of the most typical congenital illnesses and syndromes. The ebook is organised in accordance with physique approach, with chapters targeting the CNS, the top and neck, the chest and center, the stomach and pelvis, and the musculoskeletal method. a last bankruptcy is dedicated to phacomatoses. each one syndrome or ailment is illustrated by way of a number of pictures in addition to through high quality electronic clinical illustrations depicting these radiological indicators which are tricky to discover. The reader is thereby familiarised with a few of the congenital anomalies from the radiological viewpoint. furthermore, etiology, diagnostic standards, and major signs are defined, and power differential diagnoses highlighted. This booklet should be immensely worthy for junior radiologists, radiology scholars, and medical professionals in any uniqueness who're drawn to congenital malformations and syndromes.
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Additional resources for Congenital Diseases and Syndromes
Part I: Menkes disease. Eur J Paediatr Neurol 1999;3:147–158 2. Menkes JH. Menkes disease and Wilson disease: Two sides of the same copper coin. Part II: Wilson disease. Eur J Paediatr Neurol 1999;3:245–253 3. Akhan O et al. Imaging ﬁndings of liver involvement of Wilson’s disease. Eur J Radiol 2007. 1016/j. 029 4. Yamada H et al. Menke’s kinky hair disease: Report of a case and distribution of sulfhydrl residues and disulﬁde bonds in kinky hair. J Eur Acad Dermatol Venerol 1996;6:240–245 5. Kodama H et al.
Mazabraud syndrome: is a rare disease characterized by the association of polyostotic fibrous dysplasia with intramuscular myxoma. Signs on Plain Radiographs Diﬀuse thickening and sclerosis of the aﬀected facial bones with classic “ground glass” appearance due to the brous matrix nature of the disease. Fig. 2. Illustration of a young girl with bilateral full cheeks (cherubism). 3 Craniofacial Fibrous Dysplasia and Its Anomalies Fig. 4. Axial bone-window CT images of a patient with leontiasis ossea.
In agenesis of the CC, there is complete absence of CC fibers between the cerebral hemispheres, while in hypoplasia of the CC, there is absence of the posterior segments only (rostum and splenium). Fig. 1. Axial T2-weighted MR image shows enlargement of the occipital horn (colpocephaly) of the right lateral ventricle in a patient with CC agenesis (arrowhead ) Signs on CT and MRI ¼ Absence of the CC genu or splenium on axial images. ¼ Colpocephaly: is enlargement of the occipital and the temporal horns of the lateral ventricles.
Congenital Diseases and Syndromes by Jarrah Ali Al-Tubaikh, Maximilian F Reiser