Case Reports - Presentation Of A Pedigree Of An Iranian Family With TwoMembers With Cutis Laxaautosomal Recessive Type I
2007
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.
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