Joubert-Boltshauser syndrome with polydactyly in siblings.
نویسندگان
چکیده
Two siblings are described with clinical features of the Joubert-Boltshauser syndrome. Both had polydactyly and one had fleshy tumours of the tongue. Computed tomography of the brain showed hypoplasia of the cerebellar vermis, associated in one case with a cyst of the fourth ventricle.
منابع مشابه
CLINICAL REPORT Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients
A. Poretti T.A.G.M. Huisman I. Scheer E. Boltshauser SUMMARY: VH and MTS are the neuroimaging hallmarks of JSRD. We aimed to look at the full spectrum of neuroimaging findings in JSRD and reviewed the MR imaging of 75 patients with JSRD, including 13 siblings and 4 patients with OFD VI. All patients had VH and enlargement of the fourth ventricle. The degree of VH and the form of the MTS were va...
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متن کاملJoubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients.
VH and MTS are the neuroimaging hallmarks of JSRD. We aimed to look at the full spectrum of neuroimaging findings in JSRD and reviewed the MR imaging of 75 patients with JSRD, including 13 siblings and 4 patients with OFD VI. All patients had VH and enlargement of the fourth ventricle. The degree of VH and the form of the MTS were variable. In most patients, the cerebellar hemispheres were norm...
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ورودعنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 45 8 شماره
صفحات -
تاریخ انتشار 1982