Volume 18, Issue 1 (5-2004)                   Med J Islam Repub Iran 2004 | Back to browse issues page

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POUR-JAFARI H, SARIHI A. PRESENTATION OF A PEDIGREE OF AN IRANIAN FAMILY WITH TWO MEMBERS WITH CUTIS LAXA AUTOSOMA LRECESSIVE TYPE I. Med J Islam Repub Iran 2004; 18 (1) :87-89
URL: http://mjiri.iums.ac.ir/article-1-661-en.html
PRESENTATION OF A PEDIGREE OF AN IRANIAN FAMILY WITH TWO MEMBERS WITH CUTIS LAXA AUTOSOMA LRECESSIVE TYPE I
H POUR-JAFARI , A SARIHI
From the Departments o.fGenetics Sciences. Hamadan. I.R. Iran. , h_pourjafari@yahoo.com
Abstract:   (4441 Views)
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.
Keywords: Abnormalities, Cutis laxa, Hereditary diseases.
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Type of Study: case report | Subject: Biological Sciences
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