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Osservazione sulla trasmissione ereditaria della sindrome di Ellis-Van Creveld

Published online by Cambridge University Press:  01 August 2014

Carlo Zunin
Carlo Zunin*
Affiliation:
Caltedra di Genetica Medica dell'Università di Genova (Italia) Divisione Pediatrica, Ospedale Civile di Santa Croce, Cuneo (Italia)

Summary

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Two personal observations are presented, the former including a pedigree showing both on the maternal and paternal side isolated symptoms of the Ellis-van Creveld syndrome, and the latter consisting in an affected child ensued from a consanguineous marriage, his parents being first cousins. The cases of the literature in which the hereditary component is evident (28 in 49) are also examined. The most significant data from a genetic standpoint are discussed, i. e. the presence of isolated symptoms in the families of the patients, the consanguinity in the parents, the presence of the syndrome in different members of the same sibship. As a conclusion the recessive inheritance, through an autosomal polyphenic gene, is confirmed.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 12 , Issue 3 , July 1963 , pp. 269 - 275
Copyright
Copyright © The International Society for Twin Studies 1963

References

Bibliografia

Per una completa bibliografia si rinvia ai seguenti lavori:

Dayer, L.: Le syndrome d'Ellis-Van Creveld. Une forme de dysplasie chondro-éctodermique. Discussion des limites de l'affection. Biblioth. Paediatr. Karger, Bale-New York 1960.Google Scholar
Zunin, C., Vallarino, G.: La sindrome di Ellis-Van Creveld. Anal. Desarollo, 8, 235, 1961.Google Scholar
Buffoni, L.: Comunicaz. Sez. Ligure Soc. Ital. Pediatria, Genova 28 giugno 1962.Google Scholar
Gatto, I.: Ellis-Van Creveld syndrome. Helv. Paed. Acta, 6, 437, 1951.Google Scholar
Husson, S. H., Parkman, P.: Chondroectodermal dysplasia with a complete cardiac malformation. Pediatrics 28, 285, 1961.CrossRefGoogle Scholar
Lamy, M., Frezal, J.: La dysplasie chondro-éctodermique (Ellis-Van Creveld). Novant'anni delle Leggi mendeliane. Ist. G. Mendel, Roma 363, 1956.Google Scholar
Metrakos, J. D., Fraser, F. C.: Evidence for a hereditary factor in chondroectodermal dysplasia (Ellis-Van Creveld syndrome). Am. J. Hum. Genet., 6, 260, 1954.Google Scholar
Midulla, M.: La sindrome di Ellis-Van Creveld o condrodisplasia ectodermica. Pediatria Internaz., 4, 1, 1954.Google Scholar
Perrotta, P., Pisconti, G.: Contributo allo studio della sindrome di Ellis-Van Creveld. Ann. Isnardi Auxol. Norm. Patol., 7, 115, 1960.Google Scholar
Pisconti, G.: La sindrome di Ellis-Van Creveld. Min. Ped., 14, 800, 1962.Google Scholar
Spada, A.: Osservazione di un caso di sindrome di Ellis-Van Creveld. In corso di stampa su Min. Med.Google Scholar