Summary
This paper describes two families in which four boys and two girls were affected with geroderma osteodysplastica. The major features of this syndrome include a droopy, jowly, prematurely aged appearance that has been likened by previous authors to the dwarfs in Walt Disney's ‘Snow White.’ Also, their skin lacks normal elastic recoil. The bones are osteoporotic and susceptible to fractures, particularly the vertebrae, which show compression with anterior wedging and biconcavity. The findings in the present families are compared with those in the originally reported family. There was a high degree of consanguinity between the parents in both of the present families and the previous hypothesis of X-linked inheritance is questioned.
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Bamatter, F., Franceschetti, A., Klein, D., Sierro, A.: Gérodermie ostéodysplasique héréditaire. Ann. Paediatr. 174, 126–127 (1950)
Beighton, P.: The dominant and recessive forms of cutis laxa. J. Med. Genet. 9, 216–221 (1972)
Boreux, G.: La gérodermie ostéodysplasique à hérédité liée au sexe, nouvelle entite clinique et génétique. J. Genet. Hum. 17, 137–178 (1969)
Brocher, J. E. W., Klein, D., Bamatter, F., Franceschetti, A., Boreux, G.: Röntgenologische Befunde bei Geroderma osteodysplastica hereditaria. Fortschr. Röntgenstr. 109, 185–198 (1968)
Dallaire, L., Cantin, M., Melancon, S. B., Perreault, G., Potier, M.: A syndrome of generalized elastic fiber deficiency with leprechaunoid features: A distinct genetic disease with an autosomal recessive mode of inheritance. Clin. Genet. 10, 1–11 (1976)
Debré, R., Marie, J., Seringe, Ph.: “Cutis laxa” avec dystophies osseuses. Soc. Med. Hôpital Paris 53, 1038–1039 (1937)
Elefant, E., Vychytil, O., Trapl, J.: Acrogeria. Ann. Paediatr. 204, 273–280 (1965)
Feingold, M., Bossert, W. H.: Normal values for selected physical parameters: An aid to syndrome delineation. Birth Defects, Original Article Series X, 1–15 (1974)
Franceschetti, A.: Les dysplasies ectodermiques et les syndromes héréditaires apparentés. Dermatologica 106, 130–155 (1953)
Gazit, E., Goodman, R. M., Katznelson, B. M., Rotem, Y.: The wrinkly skin syndrome: A new heritable disorder of connective tissue. Clin. Genet. 4, 186–192 (1973)
Gorlin, R. J., Pindborg, J. J., Cohen, M. M.: Syndromes of the head and neck, pp. 734–736. New York: McGraw-Hill 1976
Greulich, W. W., Pyle, S. S.: Radiographic atlas of skeletal development of the hand and wrist. London: Oxford University 1959
Hoefnagel, D., Pomeroy, J., Wurster, D., Saxon, A.: Congenital athetosis mental deficiency dwarfism and laxity of skin and ligaments. Helv. Paediatr. Acta 26, 397–402 (1971)
Kaye, C. I., Fisher, D. E., Esterby, N. B.: Cutis laxa skeletal anomalies and ambiguous genitalia. Am. J. Dis. Child. 127, 115–117 (1974)
Klein, D., Bamatter, F., Franceschetti, A., Boreux, G., Brocher, J. E. W., Holenstein, P.: Une affection liée au sexe: la gérodermie ostéodysplastique héréditaire (20 ans d'observation). Rev. Otoneuroophtalmol. 40, 415–421 (1968)
Lamy, M., Frezal, J., Nezolof, C., Raverdy Mme: L'Acrogeria. Arch. Fr. Pediatr. 18, 18–25 (1961)
Lubchenco, L. O., Hansman, C., Boyd, E.: Intrauterine growth in length and head circumference as estimated from 26 to 42 weeks. Pediatr. 37, 403–416 (1966)
McCarten, K. M., Kuhns, L. P.: The area and volume of the sella turcica in childhood. Radiology 119, 645–650 (1976)
McKusick, V. A.: Heritable disorders of connective tissue, pp. 292–371. Saint Louis: C.V. Mosby 1972
McKusick, V. A.: Mendelian inheritance in man, p. 260, Baltimore: Johns Hopkins 1975
Pieron, A. P.: Dislocation of hip associated with hypotonia. Manitoba Med. Rev. 48, 154–158 (1968)
Poznanski, A. K.: The hand in radiologic diagnosis, pp. 29–44. Philadelphia: Saunders 1974
Sesak, Z.: Ehlers-Danlos syndrome and cutis laxa: An account of families in the Oxford area. Ann. Hum. Genet. 25, 313–321 (1962)
Silverman, F. N.: An introduction to roentgenographic cephalometry. In: Progr. Pediat. Radiol., Vol. 5, H. J. Kaufmann, ed., pp. 137–159. Basel: Karger 1976
Taybi, H.: Radiology of syndromes, p. 317. Year Book Medical 1975
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Hunter, A.G.W., Martsolf, J.T., Baker, C.G. et al. Geroderma osteodysplastica. Hum Genet 40, 311–324 (1978). https://doi.org/10.1007/BF00272192
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DOI: https://doi.org/10.1007/BF00272192