A syndrome of generalized elastic fiber deficiency with leprechaunoid features: a distinct genetic disease with an autosomal recessive mode of inheritance

Abstract

Three male infants with generalized elastolysis and leprechaunoid features from two related and consanguineous parents of Italian origin died in the first year of life following severe cardio-pulmonary complications. While these children showed a decrease in elastic fibers, no degeneration was noted and histochemical as well as systemic metabolic studies were negative. It is postulated that this disease is a variant of cutis laxa or at least that the absence of granular degeneration of the elastic fibers described by Goltz is a secondary manifestation present only in older children. Prenatal diagnosis of this syndrome is not yet possible since no intracellular or biochemical changes have been identified. In view of the familial occurrence of this syndrome, and the association of specific clinical and pathological findings, we suggest that we are dealing with a distinct hereditary disorder of the connective tissue.