CT and MR Imaging Findings in the Joubert Syndrome, a "Ciliopathy"
نویسندگان
چکیده
منابع مشابه
CT and MR Imaging Findings in the Joubert Syndrome, a “Ciliopathy”
A 7-year-old boy presented with cerebellar ataxia with reduced tonicity, deficits of the fine and gross motor coordination skills and vestibular stimulus processing, as well as significantly delayed language development. MR imaging showed the so-called “molar tooth sign”, which was highly pathognomonic for the Joubert-Syndrome—an inherited cerebellar ataxia with a variety of clinical symptoms—a...
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 کاملKimura disease: CT and MR imaging findings.
BACKGROUND AND PURPOSE KD is a rare chronic inflammatory disorder of unknown etiology. The purpose of this study was to evaluate the CT and MR imaging findings of KD in the head and neck. MATERIALS AND METHODS We retrospectively reviewed the CT (n = 21) and MR (n = 9) images obtained in 28 patients (24 males and 4 females; mean age, 32 years; age range, 10-62 years) with histologically proved...
متن کاملJoubert syndrome: the clinical and radiological findings.
Joubert syndrome is a rare disease characterised by clinical and radiological findings. Among the classic clinical findings of JS are hypotonia, ataxia, mental-motor retardation, respiratory and opthalmological findings. The paediatric cases included in the study comprised nine patients. There was familial consanguinty in seven cases. Clinically, all cases had mental-motor retardation and hypot...
متن کاملMR 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 کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Biomedical Science and Engineering
سال: 2015
ISSN: 1937-6871,1937-688X
DOI: 10.4236/jbise.2015.810066