Volume 2, Issue 6 (Spring 1999)
J Arak Uni Med Sci 1999, 2(6): 23-26 |
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Azymi H, Rafeei M, Kabyri P, Karami A. A Rare Genetic Syndrome Case Report: Cockayne Syndrome. J Arak Uni Med Sci 1999; 2 (6) :23-26
URL: http://jams.arakmu.ac.ir/article-1-6574-en.html
URL: http://jams.arakmu.ac.ir/article-1-6574-en.html
1- Arak Welfare Organization, Arak, Iran.
Abstract: (1601 Views)
Today's considerable improvements in health scince and medical fields, preventing infectious diseases and the lack of missfeeding, inherited disease and abnormalities caused by it have appeared much more seriously, specially in advanced countries. Accoreding to our statistics 30.000 to 40.000 abnormal infants are born in Iran every year and a considerable number of them go on plant with living difficulties, however in order to considerable improvement in diagnosing-preventing and curing the inherited diseases, detecting these disease in embryonic satage has become possible and so we can do our best not to have abnormal infants any more. Since in Iran medical universities clinical genetics and genetic syndromes have received little importance, we are to report a rare syndrome case considered in central genetics-medical consulting in Behzysti organization of central province in Arak. It was finally diagnosed.
In this investigation s four- years boy affected by Cockayne syndrome is reported. He was the result of a family marriage (daughter of uncle- son of aunt) grade three and inherited austosomal recessive. Some symptoms are: dwarfism, mental and movement relationship, protruded ears, sunkened eyes, beak nose, carioused teeth, deafness, retini pigmentosa, retina degeneration, butterfly rush on the face, photosensitivity and progeria, defect in DNA transcriptions. The goal of this investigation is getting more acquaintance of this rare syndrome, enhancing the role of diagnosing this disese and putting more importance on consulting before marriage and after the abnormal infant is born, and making the students and doctors of clinical genetics acquainted with this case more, as well.
In this investigation s four- years boy affected by Cockayne syndrome is reported. He was the result of a family marriage (daughter of uncle- son of aunt) grade three and inherited austosomal recessive. Some symptoms are: dwarfism, mental and movement relationship, protruded ears, sunkened eyes, beak nose, carioused teeth, deafness, retini pigmentosa, retina degeneration, butterfly rush on the face, photosensitivity and progeria, defect in DNA transcriptions. The goal of this investigation is getting more acquaintance of this rare syndrome, enhancing the role of diagnosing this disese and putting more importance on consulting before marriage and after the abnormal infant is born, and making the students and doctors of clinical genetics acquainted with this case more, as well.
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