منابع مشابه
MR Imaging Findings in Xp21.2 Duplication Syndrome.
Xp21.2 duplication syndrome is a rare genetic disorder of undetermined prevalence and clinical relevance. As the use of chromosomal microarray has become first line for the work-up of childhood developmental delay, more gene deletions and duplications have been recognized. To the best of our knowledge, the imaging findings of Xp21.2 duplication syndrome have not been reported. We report a case ...
متن کاملJoubert syndrome: magnetic resonance imaging findings
Case Report A 2.5 year old girl with motor and mental retardation, nystagmus and ataxic movements was referred to our department for a cranial magnetic resonance imaging study. She was the first child of a second degree consanguineous marriage. The parents also informed that she had abnormal eye movements and delayed neurologic development. She was diagnosed in another medical center as having ...
متن کاملDiencephalic syndrome: clinical features and imaging findings.
PURPOSE To emphasize the importance of imaging in children with diencephalic syndrome due to hypothalamic/chiasmatic astrocytomas. METHODS Findings in nine patients (mean age, 26 months) with diencephalic syndrome and hypothalamic/chiasmatic astrocytomas were analyzed retrospectively, including reviewing clinical records, imaging examinations, and follow-up studies. RESULTS Symptoms and sig...
متن کاملSAPHO Syndrome: Imaging Findings of Vertebral Involvement.
BACKGROUND AND PURPOSE Imaging findings in patients with a combination of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) are often misinterpreted as discitis/osteomyelitis or metastases, resulting in multiple biopsies and delayed diagnosis. We have incidentally noted a semicircular morphology in vertebral body imaging in several cases of SAPHO syndrome with vertebral involvemen...
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ژورنال
عنوان ژورنال: American Journal of Roentgenology
سال: 1998
ISSN: 0361-803X,1546-3141
DOI: 10.2214/ajr.170.4.9530063