Hostname: page-component-848d4c4894-r5zm4 Total loading time: 0 Render date: 2024-07-05T17:27:29.419Z Has data issue: false hasContentIssue false
  • English
  • Français

Malformazioni multiple degli Arti in due Fratelli Considerazioni Genetiche

Published online by Cambridge University Press:  01 August 2014

Francesco S. Santori
Francesco S. Santori*
Affiliation:
Clinica Ortopedica dell'Università di Firenze (Italia)

Summary

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

A sibship is described showing partial aplasias of lower and upper limbs. The concordance of the malformations in the two brothers, the presence in the ascendents of various skeletal and extra-skeletal anomalies, as well as the lack of other causes which could have originated the malformations have made us diagnose the genetic origin of the malformation.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 12 , Issue 4 , October 1963 , pp. 342 - 357
Copyright
Copyright © The International Society for Twin Studies 1963

References

Bibliografia

Aletter, C.: Über die angeborenen Defekte der Tibia. Frank. Zschr. Path., 43, 196, 1932.Google Scholar
Anzialetti, G.: Assenza congenita del perone, considerazioni sulla anatomia patologica e sulla patogenesi di tale deformità. Arch. Ort., 1–18, 26, 1909.Google Scholar
Bansillon, E., Notter, A., Duparc, J.: Malformations osseuses multiples avec lacunes de la voûte cranienne et ostéochondrite. Presse Med., 65, 787, 1967.Google Scholar
Belloni, G.: Contributo allo studio delle assenze e malformazioni ossee congenite degli arti. Arch. Ort., 305–43, 45, 1929.Google Scholar
Berndorfer, A.: Die Geschichte der Operationen der angeborenen Missbildungen. Zbl. Chir., 1562, 2, 1955.Google Scholar
Bignami, C.: Sopra un caso di malformazioni congenite simmetriche bilaterali delle mani e dei piedi. Arch. On., 64, 2, 150–55, 1951.Google Scholar
Böök, J. A., Santesson, B.: Lancet 858, 161, 1960.Google Scholar
Branciforti, A., Franz, A., Goidanich, I. F.: Il trattamento dell'assenza congenita del perone. Chir. Org. Mov., 347–62, 41, 1955.Google Scholar
Brücke, F.: Über einige Folgerungen aus den Embryonalschädigungen durch Thalidomid. Wiener Klin. Wschr., 864, 1962.Google Scholar
Büchner, F. V., Rübsamen, H. V., Rothweiler, G.: Reproduktion fundamentaler menschlicher Missbildungen am Hühnchenkeim durch o2 Mangel. Natur. Wiss., 38, 142, 1951.Google Scholar
Buzachi, T.: Intorno alla mancanza congenita del perone. Arch. ort., 114–36, 4, 1892.Google Scholar
Carraro, A.: Assenza congenita della tibia e sordomutismo in 4 fratelli. Chir. Org. Mov., 129–37, 16, 1931.Google Scholar
Cawson, R. A.: Drugs and congenital malformation. Canad. Med. Ass. J., 87, 1288, 1962.Google Scholar
Chiappara, P.: Il trauma prenatale come causa di malformazioni, ricerche sperimentali sugli arti di embrione di pollo e considerazioni sulla teratogenesi umana. La Clin. Ortop., 83–108, 8, 1956.Google Scholar
Corneli, F.: Contributo allo studio della perodattilia. Min. Ortop., 13–17, 5, 1954.Google Scholar
Crawfurd, M. D. A.: Lancet, 22, 2, 1961.Google Scholar
De Lucchi, G.: Eredità ed Ortopedia. Ed. Cappelli, Bologna 1942.Google Scholar
Dumont, M.: Rôle des maladies infectieuses sans atteinte apparente de la mère dans l'étiologie des malformations congénitales. Presse Med., 116, 62, 1954.Google Scholar
Engelhardt, E., Pischinger, H.: Über ein durch Röntgenstrahlen verursachte menschliche Mißbildung. Münch. Med. Wschr., 1315, 1939.Google Scholar
Farquahr, J. W.: The child of the diabetic women. Arch. Dis. Childh. London, 173, 34, 1959.Google Scholar
Ferrando, J.: Contributo alla casistica delle deformità congenite degli arti inferiori. Arch. Ort., 385–87, 10, 1893.Google Scholar
Freund, E.: Congenital defects of femur fibula and tibia. Arch, of Surgery, 349–91, 33, 1936.Google Scholar
Gedda, L.: Studio dei gemelli, 612–13, ed. Orizzonte Medico.Google Scholar
Giroud, A., Tuchmann, H., Mercier Parot, L.: Observation sur les repercussions tératogéniques de la talidomide dans le Rabbit. CR. Soc. Biol. Paris, 765, 156, 1960.Google Scholar
Graziani, P.: Contributo allo studio dell'assenza congenita della tibia o del perone. Ort. Traum, app. mot., 163–79, 8, 1936.Google Scholar
Gregg, N. M.: Rubeola during pregnancy of the mother with its sequelae of congenital defects in the child. Med. J. Austral., 1, 313, 1945.Google Scholar
Gregg, N. M.: Congenital cataract following german measles in mother. Trans. Ophtalm. Soc. Austral., 3, 35, 1944.Google Scholar
Gruber, : Die Morphologie der Mißbildungen der Menschen und der Tiere. Fischer Jena 1937.Google Scholar
Guilleminet, M., Gate, A., Desbrosses, J.: Malformations congénitales avec retraction des membres inférieurs en flexion. Lyon Chir., 53, 783–84, 1957.Google Scholar
Hapig, : Über kongenitalen Fibuladefekt. Med. Diss. Berlin 1919.Google Scholar
Hiromoto, B.: Statistik der angeborenen Missbildungen in Japan, Arch. Orth. Unfheilk., 12, 219, 1913.Google Scholar
Kaji, T.: Thalidomide and congenital deformities. Lancet, 161, 2, 1962.Google Scholar
Kenny, S.: Phocomelia-three cases. Brit. J. Radiol., 35, 462, 1962.Google Scholar
Kiptenko, : Ein Fall von Peromelie. Arch. Ort, 25, 258, 1927.Google Scholar
Klebanow, I.; Eggnauer, H.: Zur Frage der kausalen Genese von angeborenen Mißbildungen. Med. Klin., 1198, 1233. 1956.Google Scholar
Kosenow, W.; Pfeiffer, R. A.: Chromosomen Aberrationen und ihre Bedeutung für die Klinik. Deut. med. Wschr., 2, 1413, 1962.Google Scholar
Leck, I. M., Millar, E. L.: Incidence of malformations since the introduction of thalidomide. Brit. med. J., 2, 16, 1962.Google Scholar
Lewenthal, H., Benadereth, E.: Congenital abnormalities associated with administration of thalidomide in pregnancy. Harufuah, 62, 293, 1962.Google Scholar
Libenam, : Über gleichzeitiges Vorkommen multipler Mißbildungen. Zschr. Konst. Lehre, 25, 342, 1942.Google Scholar
Lindemann, K.: Die angeborene Deformitäten des Unterschenkels. Handbuch der Orthopädie 741–50, Thieme Verlag Stuttgart 1957.Google Scholar
Lindemann, K.: Über die Beziehungen der angeb. Gliedmassenstummel zu erblichen Mißbildungen. Zschr. Orthop., 66, 328, 1937.Google Scholar
Lindemann, K.: Peromelie und erbliche Mißbildungen. Münch, med. Wschr., 513, 1939.Google Scholar
Macciocchi, B.: Un caso di malformazioni congenite multiple degli arti inferiori. Arch. Ort., 23–26, 61, 1948.Google Scholar
Macht, S. H., Lawrence, P. S.: National Survey of congenital malformations resulting from exposure to roentgen radiation. Am. J. Roent. Rad. Terapy, 73, 443, 1955.Google Scholar
Maiotti, A., Piantoni, D.: Apporto sull'importanza dei fattori intrinseci nella genesi delle malformazioni congenite. Orizzonti della Ortop. Odierna e della Riab., 583–605, 1, 2, 1957.Google Scholar
Marconi, S.: Malformazioni degli arti inferiori da spina bifida occulta. Chir. Org. Mov., 401–6, 20, 1934.Google Scholar
Mazzitelli, P.: Sopra un raro caso di assenza congenita bilaterale del perone. Arch. Ort., 15, 310, 1398.Google Scholar
Michels, B.: Brachiale Peromelie. Zbl. Gynäk., 69, 558, 1947.Google Scholar
Motta, M.: Un caso di mancanza congenita della tibia. Arch. Ort., 304–11, 7, 1890.Google Scholar
Müller, W.: Die verschiedenen Fehlbildungentenzen am Vorderarm. Arch. Ort. u. Unfallchir., 38, 121–28, 1922.Google Scholar
Nordmann, M., Lindemann, K.: Tetraperomelie und Zentralnervensystem. Virchow. Arch., 306, 175, 1933.Google Scholar
Ollerenshaw, R., Congenital defects of the long bones of the lower limb. A contribution to the study of their causes, effect and treatment J. B. J. S., 23, 528, 1925.Google Scholar
Ombredanne, L., Mithieu, P.: Trattato di chirurgia ortopedica. Vol. 1, Ed. Manon 1937.Google Scholar
Ostertag, : Die erbbiologische Beurteilung angeborener Miß- und Fehlbildungen und die Frage gegenseitiger Abhängigkeit. Zschr. f. Orthop. Chir., 66, 30–60, 1938.Google Scholar
Palagi, P.: Studio radiografico di alterazioni di sviluppo del sistema scheletrico. Atti. S. I. O. T., 5, 12, 1908.Google Scholar
Patau, K., Smith, D. W., Therman: Lancet, 184, 1, 1960.Google Scholar
Putti, V.: Principi e tecnica della cura chirurgica dell'assenza congenita della tibia. Atti. S. I. O. T, 13, 37, 1922.Google Scholar
Putti, V.: Cura dell'assenza congenita della tibia o del perone. Chir. Org. Mov., 13, 513–25, 1929.Google Scholar
Raffaut, H. J.: Bewirkt Thalidomid keine Schäden? Deut. Med. Wschr., 935, 1, 1961.Google Scholar
Rodin, A. E., Koller, L. A., Taylor, J. D.: Association of thalidomide with congenital malformations. Canad. Med. Ass. J. 86, 744, 1962.Google Scholar
Salaghi, R.: Sopra un caso di assenza di sviluppo di entrambi gli arti. Arch. Ort., 11, 383–85, 1894.Google Scholar
Scheggi, S.: Di un caso di assenza congenita bilaterale della tibia e del suo recupero per la funzione agli effetti sociali e del lavoro. Chir. Org. Mov., 28, 295–98, 1934.Google Scholar
Schwalbe-Gruber, : Mißbildungen der Extremitäten. Fischer Verlag, Jena 1958.Google Scholar
Scorlini, G.: Deformità congenita rara del bacino e dell'arto inferiore. Atti S. I. O. T., 8, 214–24, 1913.Google Scholar
Speirs, A. L.: Thalidomide and congenital abnormalities. Lancet 1, 303, 1962.Google Scholar
Taussig, H. B.: A study of the German outbreak of phocomelia. The thalidomide syndrome. J. Amer. Med. Ass., 180, 1106, 1962.Google Scholar
Turpin, R., Lejeune, J., Lafourcade, J., Gautier, M.: C. R. Acad. Sci. Paris, 248, 2626, 1959.Google Scholar
Valentin, B.: Beiträge zur Ätiologie der kongenitalen Mißbildungen. Zschr. f. orthop. Chir., 48, 406–21, 1927.Google Scholar
Vecchione, F.: Contributo allo studio dell'aplasia congenita del perone associata ad altre deformità. Ort. traum. app. mot., 12, 235–60, 1940.Google Scholar
Venturini, G.: Su un caso di malformazione congenita delle mani e dei piedi. Chir. Ort., 8, 245, 1956.Google Scholar
Vonnegut, F. A.: Die eugenetische Indikation zur Schwangerschaftunterbrechung bei erblichen Missbildungen. Zbl. Gynäk., 2197, 1926.Google Scholar
Walker, W. M., McKee, A. P.: Asian influenza in pregnancy relationship to fetal anomalies. Obstetrics Gyn. N. Y., 13, 394–98, 1959.Google Scholar
Warkany, J., Nelson, R. C.: Appearance of skeletal abnormalities in offspring of rats reared on a deficient diet. Science, 92, 383, 1940.Google Scholar
Warkany, J., Beaudry, P. H., Hornstein, S.: Attempted abortion with aminopterin, malformations of the child. A. M. A. J. of diseases of Ch., 97, 3, 1959.Google Scholar
Warkany, J., Etiology of congenital malformations. Adv. Pediatr., 2, 1, 1947.Google Scholar
Weil, S.: Die angeborenen Erkrankungen der Schultergegend und des Schultergelenkes. Handbuch der Orthopädie, Thieme Verlag Stuttgart, 383, 1957.Google Scholar
Werthemann, A.: Entwicklungsstörungen der Extremitäten. Springer-Verlag, Berlin-Heidelberg 1952.Google Scholar