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PubMed · 4064367

Variable clinical presentation of cutis laxa.

J S Fitzsimmons·E M Fitzsimmons·P R Guibert·V Zaldua·K L Dodd
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Abstract

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.

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Connective Tissue DiseasesCutis LaxaHumansMalePhenotypeCase ReportsJournal Article

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BibTeXRIS

J S Fitzsimmons, E M Fitzsimmons, P R Guibert, V Zaldua, K L Dodd. 1985. Variable clinical presentation of cutis laxa.. https://doi.org/10.1111/j.1399-0004.1985.tb00402.x

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