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Medical Journal of Islamic Republic of Iran، جلد ۱۸، شماره ۱، صفحات ۸۷-۸۹
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عنوان انگلیسی PRESENTATION OF A PEDIGREE OF AN IRANIAN FAMILY WITH TWO MEMBERS WITH CUTIS LAXA AUTOSOMA LRECESSIVE TYPE I
چکیده انگلیسی مقاله Congenital cutis laxa is an exceptional condition. No large scale pedigree has been reported from Iran. We report a family with 106 members with two members affected with cutis laxa. Our cases were two patients (male and female) with pre- and postnatal growth retardation, cutis laxa, characteristic facies and other manifestations which proved that they were affected with cutis laxa. Their family history was studied and a large pedigree was drawn up. Based on the findings in their pedigree pattern, in addition to clinical and pathological studies, one can say that cutis laxa in this family is autosomal recessive. We also showed obligate carrier members in the family. Recent studies have shown that cutis laxa is a heterogeneous group of conditions both clinically and genetically. Autosomal dominant, autosomal recessive, X -linked and also acquired forms have been reported. Our study indicates that our case is an autosomal recessive type I. We discussed the pedigree that covers five generations.
کلیدواژه‌های انگلیسی مقاله Abnormalities, Cutis laxa, Hereditary diseases.
نویسندگان مقاله h پورجعفری | h pour jafari
from the departments o.f genetics sciences. hamadan. i.r. iran.


a صریحی | a sarihi
the departments o.f genetics and physiology, medical school, hamadan university o.fmedical sciences. hamadan. f.r. ira

سازمان اصلی تایید شده: دانشگاه علوم پزشکی همدان (Hamadan university of medical sciences)

نشانی اینترنتی http://mjiri.iums.ac.ir/browse.php?a_code=A-10-298-120&slc_lang=en&sid=en
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