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Malformations Complexes des Membres Supérieurs Associées à une Cardiopathie Congénitale. À propos de six observations

Published online by Cambridge University Press:  01 August 2014

I. Emerit
Affiliation:
Chaire de Cardiologie, Hôpital Broussais, Chaire de Génétique Médicale Hôpital des Enfants Malades, Service Central de Radiologie Hôpital Broussais - Paris (France)
J. de Grouchy
Affiliation:
Chaire de Cardiologie, Hôpital Broussais, Chaire de Génétique Médicale Hôpital des Enfants Malades, Service Central de Radiologie Hôpital Broussais - Paris (France)
M. Laval-Jeantet
Affiliation:
Chaire de Cardiologie, Hôpital Broussais, Chaire de Génétique Médicale Hôpital des Enfants Malades, Service Central de Radiologie Hôpital Broussais - Paris (France)
P. Corone
Affiliation:
Chaire de Cardiologie, Hôpital Broussais, Chaire de Génétique Médicale Hôpital des Enfants Malades, Service Central de Radiologie Hôpital Broussais - Paris (France)
P. Vernant
Affiliation:
Chaire de Cardiologie, Hôpital Broussais, Chaire de Génétique Médicale Hôpital des Enfants Malades, Service Central de Radiologie Hôpital Broussais - Paris (France)

Summary

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The authors report on six patients exhibiting a congenital heart disease and malformations of the upper limbs. In two of them this association is similar to that described by Holt and Oram in 1960: atrial septal defect, heart arrythmia and abnormal thumbs. The other four patients have the same skeletal anomalies but different heart malformations. Dermatoglyphic studies revealed a high frequency of a distal position of the axial triradius and of an equivalent of a simian crease. The karyotypes are all normal. The etiology is discussed.

Type
Research Article
Copyright
Copyright © The International Society for Twin Studies 1965

References

Bibliographie

1. Arey, L. B.: Developmental anatomy 6th ed., W. B. Saunders Co. Philadelphia and London, 1954.Google Scholar
2. Bargmann, W., Doerr, W.: Das Herz des Menschen, Georg Thieme Verlag. Stuttgart, 1: 81, 1963.Google Scholar
3. Barsky, A. Z.: Congenital anomalies of the hand. J. Bone Surgery, 33-A, 35, 1951.CrossRefGoogle Scholar
4. Beswick, R. C., Warner, R. & Warkany, J.: Congenital anomalies following maternal rubella. Amer. J. Dis. Child., 78: 334, 1949.Google ScholarPubMed
5. Birch-Jensen, A.: Congenital deformities of the upper extremities. Thèse Copenhague 1949.CrossRefGoogle Scholar
6. Böök, J. A., Santesson, B., Zetterqvist, P.: Association between congenital heart malformation and chromosomal variations. Acta. Paediat. (Uppsala) 50: 217, 1960.Google Scholar
7. Calo, A.: Cardiopatie congenite e malformazione degli arti. Cuore e circolazione, 37: 303, 1953.Google Scholar
8. Campbell, M.: Place of maternal rubella in the aetiology of congenital heart disease. Brit: Med. J., 1: 691, 1961.Google ScholarPubMed
9. Cummins, H. & Midlo, Ch.: Fingers prints, palms and soles. Dover Publications, Inc. New York, 1943.Google Scholar
10. Guthbert, R. & Speirs, A. L.: Thalidomide induced malformations. Clin. Radiol., 14: 163, 1963.CrossRefGoogle Scholar
11. Emerit, I., Grouchy, J. de, Vernant, P., Corone, & Gennes, J. L. de: Communication interauriculaire. troubles du rythme et malformation des membres supérieurs. Un nouveau syndrôme. Annales de Pédiatrie, 63, 40ème année p. 2560, 1964.Google ScholarPubMed
12. Entin, M. A.: Reconstruction of congenital anomalies of the upper extremities. J. Bone and Joint Surgery, 41-A: 681, 1959.CrossRefGoogle ScholarPubMed
13. Ferguson-Smith, M. A., Johnston, A. W. & Handmaker, S. D.: Primary amentia and microorchidism associated with on XXXY sex chromosome constitution. Lancet, 11: 184, 1960.CrossRefGoogle Scholar
14. Ferber, C.: Ein Beitrag zur Dreigliedrigkeit des Daumens. Z. Orthop., 80: 294, 1961.Google Scholar
15. Grobelnik, S.: Dreigliedriger Langfinger. Z. Orthop., 80: 294, 1951.Google Scholar
16. Grouchy, J. de, Lamy, M. & Roubin, M.: Etude du caryotype humain à partir d'une culture de leucocytes. Annales de Pédiatrie, 23, p. 800, 39ème année 1963.Google Scholar
17. Holt, M. & Oram, S.: Familial heart disease with skeletal malformations. Brit. Heart. J., 22: 236, 1960.CrossRefGoogle ScholarPubMed
18. Hopf, A.: Die angeborenen Veränderungen des Unterarms und der Hand. Handbuch der Orthopedie 3: 444, 1959. Georg Thieme Verlag, Stuttgart, 1959.Google Scholar
19. Joachimsthal, : Cité par Birch-Jensen.Google Scholar
20. Kanavel, F.: Congenital malformations of the hand. Arch. Surgery, 25: 1, et 228, 1942.CrossRefGoogle Scholar
21. Klemm, F. W.: Dolichophalangie mit echter Hyperphalangie. Fortschr. Röntgenstrahlen, 85: 256, 1956.CrossRefGoogle Scholar
22. Kuhn, E.: Primary pulmonary hypertension, congenital heart disease and skeletal anomalies in three generations. Jap. Heart J., Mai 1963.Google Scholar
23. Lange, M.: Erbbiologie der angeborenen Körperfehler. Z. Orthop. Chir., 63: 1, 1935.Google Scholar
24. Lapidus, P. W. et al.: Triphalangeal thumb. Surg. Gynec. Obstet., 77: 178, 1943.Google Scholar
25. Lefebvre, J. & Savart, P.: Malformations congénitales du membre supérieur. Encyclopédie Médiochirurgicale, Radiodiagnostic Vol. 2.Google Scholar
26. Matturi, L. & Nodari, R.: Studio anatomo-clinico su 19 casi di embriopatia da talidomide. Folia Hered. Path., 12: 267, 1963.Google Scholar
27. McKusick, V. A.: Medical Genetics 1960, XI: Cardiovascular system et J. Chron. Dis. 14: 100, 1961.Google Scholar
28. Michaels, R. M. & Mellin, G. B.: Prospective experience with maternal rubella and the associated congenital malformations. Pediatrics, 26: 200, 1960.CrossRefGoogle Scholar
29. Müller, W.: Die angeborenen Fehlbildungen der menschlichen Hand. Thieme Verlag Leipzig 1937.Google Scholar
30. Nigst, P. F.: Schweiz. Med. Wochenschrift 8: N. 1, 5, 1927.Google Scholar
31. Nitsche, F. & Armknecht, Ch.: Z. Orth. Chirurgie, 58: 533, 1933.Google Scholar
32. Orel, H.: Kleine Beiträge zur Vererbungswissenschaft. Zeitschr. f. Konstitutionslehre, 15: 748, 1931.Google Scholar
33. Ottendorf, P.: Zur Frage des dreigliedrigen Daumens. Zschr Orthop. Chir., 17: 748, 1931.Google Scholar
34. Pruzanski, W.: Familial congenital malformation of the heart and upper limbs. A syndrome of Holt-Oram. Cardiologia (Basel) 45: 21, 1964.CrossRefGoogle ScholarPubMed
35. Roberts, E.: Hereditary hyperphalangism of the thumb. J. Heredity, 34: 341, 1943.CrossRefGoogle Scholar
36. Robinson, G. C., Miller, J. R., Dill, F. J. & Kamburoff, T. D.: Klinefelter's syndrome with the XXYY sex chromosome complex. J. Pediatrics, 65: 226, 1964.CrossRefGoogle ScholarPubMed
37. Scherz, et al.: The XXXXY syndrome. J. Pediatrics 63: N. 6, 1963, p. 1093.CrossRefGoogle ScholarPubMed
38. Schinz, M. R.: Traité de Radiodiagnostic., 1: 67, 1956.Google Scholar
39. Stiles, K. B. & Pickard, J.: Hereditary malformations of the hand and feet. J. Heredity, 34: 341, 1943.CrossRefGoogle Scholar
40. Stroer, W. F. H.: Die Extremitätenmissbildungen und ihre Beziehungen zum Bauplan der Extremitäten. Z. Anat. Entwicklungsgeschichte, 108: 136, 1938.CrossRefGoogle Scholar
41. Swanson, A. B. & Brown, V. S.: Hereditary triphalangeal thumb. J. Heredity, 53: 259, 1962.CrossRefGoogle Scholar
42. Taussig, H. B.: Thalidomide and phocomelia. Abstracts of the 36th Scientific Session of the American Heart Association Circulation, 26: N. 4, p. 795, part. 2, 1962.Google Scholar
43. Töndury, G.: Embryopathien. Springer Verlag, Berlin, Göttingen, Heidelberg, 1963.Google Scholar
44. Voorhess, M. L., Aspillaga, M. J. & Gardner, L. I.: Trisomy 18 syndrome with absent radius, varus deformity of hand and rudimentary thumb. J. Pediatrics, 65: 130, 1964.CrossRefGoogle ScholarPubMed
45. Zetterqvist, P.: Multiple occurrence of atrial septal defect. Acta. Paediat. (Uppsala) 49: N. 6, 1960.CrossRefGoogle ScholarPubMed
47. Zetterqvist, P.: The syndrome of familial atrial septal defect, heart arrhytmia and hand malformation (Holt-Oram) in mother and son. Acta Paediat. (Uppsala) 52: 115, 1963.CrossRefGoogle Scholar