MALFORMATION SYNDROMES

Cutis laxa, or 'generalized elastolysis', is a systemic disorder of probable genetic etiology in which the skin hangs in loose folds about the head and trunk. Both autosomal dominant and autosomal recessive modes of inheritance have been implicated. On skin biopsy, elastic fibers are reduced in number and fragmented. Pulmonary emphysema is not uncommon; bladder and gut diverticulae are also seen. A case is reported of an infant with cutis laxa associated with skeletal anomalies, peculiar facies and genitourinary anomalies.