COCKAYNE SYNDROME: REPORT OF TWO CASES WITHIN A FAMILY
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...
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Tehran University of Medical Sciences
1999-07-01
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doaj-0552f4994d7443c8b20e88a021bd94112020-11-25T03:55:54ZengTehran University of Medical SciencesActa Medica Iranica0044-60251999-07-01372115118COCKAYNE SYNDROME: REPORT OF TWO CASES WITHIN A FAMILYM. MohammadiThe 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. http://journals.tums.ac.ir/PdfMed.aspx?pdf_med=/upload_files/pdf/4859.pdf&manuscript_id=4859Cockayne syndromemental retardationphotosensitive skin lesionsprogeroid appearancebasal ganglia calcificationsbrainstem auditory evoked potentials |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
M. Mohammadi |
spellingShingle |
M. Mohammadi COCKAYNE SYNDROME: REPORT OF TWO CASES WITHIN A FAMILY Acta Medica Iranica Cockayne syndrome mental retardation photosensitive skin lesions progeroid appearance basal ganglia calcifications brainstem auditory evoked potentials |
author_facet |
M. Mohammadi |
author_sort |
M. Mohammadi |
title |
COCKAYNE SYNDROME: REPORT OF TWO CASES WITHIN A FAMILY |
title_short |
COCKAYNE SYNDROME: REPORT OF TWO CASES WITHIN A FAMILY |
title_full |
COCKAYNE SYNDROME: REPORT OF TWO CASES WITHIN A FAMILY |
title_fullStr |
COCKAYNE SYNDROME: REPORT OF TWO CASES WITHIN A FAMILY |
title_full_unstemmed |
COCKAYNE SYNDROME: REPORT OF TWO CASES WITHIN A FAMILY |
title_sort |
cockayne syndrome: report of two cases within a family |
publisher |
Tehran University of Medical Sciences |
series |
Acta Medica Iranica |
issn |
0044-6025 |
publishDate |
1999-07-01 |
description |
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. |
topic |
Cockayne syndrome mental retardation photosensitive skin lesions progeroid appearance basal ganglia calcifications brainstem auditory evoked potentials |
url |
http://journals.tums.ac.ir/PdfMed.aspx?pdf_med=/upload_files/pdf/4859.pdf&manuscript_id=4859 |
work_keys_str_mv |
AT mmohammadi cockaynesyndromereportoftwocaseswithinafamily |
_version_ |
1724467440515022848 |