|
|
1391/7/29، جلد ۳۷، شماره ۲، صفحات -
|
|
|
| عنوان فارسی |
|
|
| چکیده فارسی مقاله |
|
|
| کلیدواژه‌های فارسی مقاله |
|
|
| عنوان انگلیسی |
COCKAYNE SYNDROME: REPORT OF TWO CASES WITHIN A FAMILY |
|
| چکیده انگلیسی مقاله |
The clinical and phenotypic features of two siblings (a 12 years old girl and her 7 year old brother) with Cockayne syndrome are described. The main problems were mild to moderate mental retardation, dwarfism, clumsy gait, photosensitive skin lesions and progeroid (senile like) appearance. Brain CT - scans revealed symmetrical, well defined areas of calcification mainly located at lenticular nuclei, in both patients. Vie brainstem auditory responses also showed increased hearing thresholds and absolute wave latencies, that were more prominent in the older sister. The older patient had a healthy twin sister with normal mental function and phenotypic appearance. |
|
| کلیدواژه‌های انگلیسی مقاله |
Cockayne syndrome, mental retardation, photosensitive skin lesions, progeroid appearance, basal ganglia calcifications, brainstem auditory evoked potentials, |
|
| نویسندگان مقاله |
40166--- |
|
| نشانی اینترنتی |
http://acta.tums.ac.ir/index.php/acta/article/viewArticle/715 |
| فایل مقاله |
فایلی برای مقاله ذخیره نشده است |
| کد مقاله (doi) |
|
| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
|
| نوع مقاله منتشر شده |
Original Article(s) |
|
|
|
برگشت به:
صفحه اول پایگاه |
نسخه مرتبط |
نشریه مرتبط |
فهرست نشریات
|
