Abstract
This report relates the case histories of two sisters who demonstrated the typical symptoms of progeria at birth. One of these children had died previous to this study. The familial occurrence underlines the thesis that progeria is an autosomal-recessive disorder. The examination of the cultured skin fibroblasts from the younger child showed a clear decrease in cell growth. On the other hand, the immunfluorescent examination of skin biopsies and cultured skin fibroblasts revealed no atypical distribution of collagen types.
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Atkins, L.: Progeria: report of a case with post-mortem findings. N. Engl. J. Med. 250, 1065 (1954)
Ball, C. R., Poynter, R. W., v. d. Berg, H. W.: A novel method for measuring incorporation of radioactive precursors into nucleic acids and proteins of cells in monolayer culture. Anal. Biochem. 46, 101 (1972)
Bhakoo, O. N., Garg, S. K., Sehgal, V. N.: Progeria with unusual ocular manifestations: Report of a case with a review of the literature. Indian Pediat. 2, 164 (1965)
Broc, R., Nicolle, M., Jaubert de Beaujeu, A.: Progeria. Etudes des lésions du système osseux. Presse méd. 43, 786 (1953)
Danes, B. S.: Progeria: a cell culture study on aging. J. Clin. Invest. 50, 2000 (1971)
De Busk, F. L.: The Hutchinson-Gilford progeria syndrome. J. of Pediatr. 80, 697 (1972)
Djupesland, T.: Progeria. Acta pediat. 51, 438 (1962)
Epstein, C. J., Martin, G. M., Motulsky, A. G.: Werner's Syndrome: caricature of aging. A genetic model for the study of degenerative diseases. Trans. Ass. Amer. Physicians Philadelphia 78, 73 (1965)
Epstein, E. H.: 1(III)3Human skin collagen. J. Biol. Chem. 249, 3225 (1974)
Erecinski, K., Bittel-Dobrzynska, N., Mostowiec, S.: Zespol progerii u dwoch braci. Pol. Tyrg. Lek. 16, 806 (1961)
Gabr, M.: Progeria. Review of the literature with report of a case. Arch. Pediat. 71, 35 (1954)
Gabr, M., Hashem, M., Fahmi, A., Safouh, M.: Progeria, a pathologic study. J. Pediat. 57, 70 (1960)
Gay, S., Fietzek, P. P., Remberger, K., Eder, M., Kühn, K.: Immunfluorescence and biochemical studies demonstrate two types of collagen. Klin. Wschr. 53, 205 (1975)
Gilford, H.: Progeria: A form of senilism. Practitioner 73, 188 (1904)
Goldstein, S.: Lifespan of cultured cells in progeria. Lancet 1969 I, 424
Hutchinson, J.: Congenital absence of hair and mammary glands... Med. Chir. Trans. 69, 36 (1886)
Keay, A. J., Oliver, M. F., Boyd, G. S.: Progeria and atherosclerosis. Arch. Dis. Child. 30, 410 (1955)
Koch, G., Meyer-Robisch, M., Schwanitz, G.: Progeria. Folio Clin. Int. (Barc.) 16, 528 (1966)
Lehmann, G. W.: Progerie-Syndrom mit erhaltener Kopfbehaarung — sog. Progeroid. Kinderärztl. Praxis 40, 293 (1971)
Mac Namara, B. G. P., Farn, K. T., Mitra, A. K., Iloyd, J. K., Fosbrooke, A. S.: Progeria. Case report with longterm studies of serum lipids. Arch. Dis. Child. 45, 553 (1970)
Martin, G. M., Sprague, C. A., Epstein, C. J.: Replicative life-span of cultivated human cells. Lab. Invest. 23, 86 (1970)
Mostafa, A. H., Gabr, M.: Heredity in progeria with follow-up of two affected sisters. Arch. pediat. 71, 163 (1954)
Noltenius, G., Wiedemann, H. R.: Progerie (Hutchinson-Gilford Syndrome). Medizin. Bild-Dienst Roche 10, 3 (1960)
Nowack, H., Gay, S., Wick, G., Becker, U., Timpl, R.: Preparation and use in immunhistology of antibodies specific for type I and type III collagen and procollagen. J. Immunol. Meth. (In press)
Plunkett, E. R., Sawtelle, W. E., Hamblen, E. C.: Report of patient with typical progeria, including data from urinary hormone studies. J. Clin. Endocrinol. Metab. 14, 735 (1954)
Rava, G.: Su un nucleo familiare di progeria. Minerva Med. 58, 1502 (1967)
Rosenthal, I. M., Bronstein, I. P., Dallenbach, F. D., Pruzansky, S., Rosenwald, A. K.: Progeria, report of a case with cephalometric roentgenograms and abnormally high concentration of lipoproteins in serum. Pediatrics 18, 565 (1956)
Villee, D. B., Nichols, G. J., Talbot, N. B.: Metabolic studies in two boys with classical progeria. Pediatrics 43, 207 (1969)
Warkany, J.: Congenital malformations. Chicago, Ill.: Year Book Medical Publishers (1971), p. 160
Wiedemann, H. R.: Progerie. Arch. Kinderheilk. 135, 169 (1948)
Wiedemann, H. R.: Über Greisenhaftigkeit im Kindesalter, insbesondere die Gilford'sche Progerie: Zugleich ein Beitrag zum Bereich der mesodermalen Dysplasie. Z. Kinderheilk. 65, 670 (1948)
Wiedemann, H. R.: Über einige progeroide Krankheitsbilder und deren diagnostische Einordnung. Z. Kinderheilk. 107, 91 (1969)
Wiedemann, H. R.: Syndrome mit besonderem “Altersaspekt”. In: Handbuch der Kinderheilkunde. Berlin-Heidelberg-New York: Springer-Verlag 1971, Vol. I, pp. 828–852
Witkowski, R., Prokop, O.: Genetik erblicher Syndrome. Akademie-Verlag, Berlin 1974, p. 343
Zeder, E.: Über Progerie, eine seltene Form des hypophysären Zwergwuchses mit diffuser Sklerodermie. Mschr. Kinderheilk. 81, 167 (1949)
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Dedicated to Prof. Dr. H.-D. Pache on his 65th birthday
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Rautenstrauch, T., Snigula, F., Krieg, T. et al. Progeria: A cell culture study and clinical report of familial incidence. Eur J Pediatr 124, 101–111 (1977). https://doi.org/10.1007/BF00477545
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DOI: https://doi.org/10.1007/BF00477545