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P. Beighton (1972)
The dominant and recessive forms of cutis laxa.Journal of Medical Genetics, 9
E. Gazit, R. Goodman, M. Bat-Miriam, Katznelson, Y. Rotem (1973)
The Wrinkly Skin Syndrome: A new heritable disorder of connective tissueClinical Genetics, 4
S. Holt, E. Hobbiger, G. Pawan (1960)
Preservation of Integrity of Rat Tissues for Cytochemical Staining PurposesThe Journal of Biophysical and Biochemical Cytology, 7
R. Goltz, A. Hult (1965)
Generalized Elastolysis (Cutis Laxa) and Ehlers-Danlos Syndrome (Cutis Hyperelastica): A Comparative Clinical and Laboratory StudySouthern Medical Journal, 58
M. Potier, L. Dallaire, S. Melançon (1975)
Occurrence and properties of fetal intestinal glycosidases (disaccharidases) in human amniotic fluid.Biology of the neonate, 27 3-4
(1969)
Discussion (of leprechaunism)
(1969)
Presentation of a patient with leprechaunism
S. Okada, J. O'brien (1969)
Tay-Sachs Disease: Generalized Absence of a Beta-D-N-Acetylhexosaminidase ComponentScience, 165
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.
Clinical Genetics – Wiley
Published: Jul 1, 1976
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