Variable clinical presentation of cutis laxa.
We present 2 families with 4 individuals suffering from congenital cutis laxa. Family A has a single affected male child with developmental delay and ligamentous laxity, making this only the second male of the total 15 patients so far reported with this particular syndrome. Family B has 3 affected males, 2 of whom have significant involvement of other systems. Only one of the 4 affected children had very obvious loose skin folds and dependency on this clinical feature alone could result in under-diagnosis of this disease. The clinical features and family pedigree information suggests recessive inheritance in Family B but the mode of inheritance in Family A is inconclusive.
D003240:Connective Tissue Diseases / Q000151:congenital / Q000235:genetics / Q000503:physiopathology; D003483:Cutis Laxa / Q000151:congenital* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008297:Male; D010641:Phenotype