کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3038571 | 1184475 | 2006 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Arthrogryposis multiplex congenita with callosal agenesis and dentato-olivary dysplasia
دانلود مقاله + سفارش ترجمه
دانلود مقاله ISI انگلیسی
رایگان برای ایرانیان
کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Arthrogryposis multiplex congenita with callosal agenesis and dentato-olivary dysplasia Arthrogryposis multiplex congenita with callosal agenesis and dentato-olivary dysplasia](/preview/png/3038571.png)
چکیده انگلیسی
We report the autopsy case of a boy with arthrogryposis multiplex congenita, associated with callosal agenesis and dentato-olivary dysplasia. The patient manifested with dysmorphic facial features and suffered from intractable epilepsy during the neonatal period. These sets of complications suggest that a common molecular mechanism may be involved in the development of corpus callosum and the folding of the dentate and inferior olivary nuclei. Deep brain structures, including the brainstem and the cerebellum, may be involved in the pathophysiology of symptomatic generalized epilepsy. The differential diagnoses for the clinical and pathological characteristics of this patient are discussed.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Brain and Development - Volume 28, Issue 4, May 2006, Pages 261–264
Journal: Brain and Development - Volume 28, Issue 4, May 2006, Pages 261–264
نویسندگان
Yoshiaki Saito, Masaharu Hayashi, Yayoi Miyazono, Tatsuro Shimogama, Kousaku Ohno,