COCKAYNE SYNDROME: REPORT OF TWO CASES WITHIN A FAMILY

COCKAYNE SYNDROME: REPORT OF TWO CASES WITHIN A FAMILY

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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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Main Author: M. Mohammadi
Format: Article
Language:English
Published: Tehran University of Medical Sciences 1999-07-01
Series:Acta Medica Iranica
Subjects:
Cockayne syndrome
mental retardation
photosensitive skin lesions
progeroid appearance
basal ganglia calcifications
brainstem auditory evoked potentials
Online Access:http://journals.tums.ac.ir/PdfMed.aspx?pdf_med=/upload_files/pdf/4859.pdf&manuscript_id=4859
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spelling 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

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