Cutis laxa with delayed development.
Two forms of cutis laxa are well delineated. One is a dominant benign disorder in which the greatest impact is on the skin, and the second is an autosomal recessive variety with serious lung involvement and early death. A third form of cutis laxa of intermediate severity, associated with mental and growth retardation, has been described. We report seven patients with this intermediate form. All patients showed marked skin changes early in life and had some degree of mental retardation which ultimately proved less severe than it appeared at presentation. Previous reports have suggested that this disorder occurs in females and may be an X-linked dominant condition which is lethal in males. The finding of four affected males in this series makes this explanation unlikely. As consanguinity and affected sibs have been reported previously it is probably an autosomal recessive disorder.
D001724:Birth Weight; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D003483:Cutis Laxa / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male