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Variable clinical presentation of cutis laxa
Author(s) -
Fitzsimmons J. S.,
Fitzsimmons E. M.,
Guibert P. R.,
Zaldua V.,
Dodd K. L.
Publication year - 1985
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1985.tb00402.x
Subject(s) - cutis laxa , variable expression , medicine , inheritance (genetic algorithm) , disease , presentation (obstetrics) , pediatrics , dermatology , genetics , biology , pathology , surgery , gene
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.