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Sindrome di Werdnig-Hoffmann familiare che include una coppia di gemelli MZ concordanti (un caso di Consulenza Eugenica)

Published online by Cambridge University Press:  01 August 2014

L. Gedda ,
G. Del Porto  and
A. Del Porto-Mercuri
L. Gedda
Affiliation:
Istituto di Genetica Medica e di Gemellologia «Gregorio Mendel»- Roma
G. Del Porto
Affiliation:
Istituto di Genetica Medica e di Gemellologia «Gregorio Mendel»- Roma
A. Del Porto-Mercuri
Affiliation:
Istituto di Genetica Medica e di Gemellologia «Gregorio Mendel»- Roma

Summary

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The Authors report the eugenic prediction formulated for a couple whose three babies (two of whom were monozygotic twins) had died as a consequence of the syndrome of Werdnig-Hoffmann. Since the two cases of the MZ twin pair represent a single chance combination at conception, and since the indications from the literature and from the family tree in this case indicate a monomeric genotype of a recessive type, the morbid risk for a fourth affected child has been estimated at 25%.

The occurrence of concordant W. H. syndrome in MZ cotwins is stressed.

No chromosome abnormalities have been revealed by karyotype examination of the parents.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 11 , Issue 2 , April 1962 , pp. 113 - 123
Copyright
Copyright © The International Society for Twin Studies 1962

References

Bibliografia

André-Thomas, , Paisseau, , Sorrel, et Sorrel-Dejérine, : Amyotrophie vrai semblablement myopathique chez deux jumelles univitellines. Rev. Neurol., 67, 567–574, 1937.Google Scholar
Beker, P. E.: Neue Ergebnisse der Genetik der Muskeldystrophien. Acta Genet., Basel, 7, 303, 1957.Google Scholar
Boeters, H.: Geanologic study of hereditary neurospinal muscular atrophy. Zschr. f. d. ges. Neurol, u. Psych., 160, 455, 1938.Google Scholar
Brandt, S.: Amyotonia congenita: 131 cases. J. Child. Psychiatr., 1, 266, 1948.Google Scholar
Brandt, S. Heredytary factors in infantile progressive muscular atrophy. Study of 112 cases in 70 families. Am. J. Dis. Children, 78, 226–236, 1949.Google Scholar
Caussade, L., Neimann, N., Arnould, P.: Sur l'étiologe de la myatonie congénitale. Arch. Franç. Péd., 5, 642–646, 1948.Google Scholar
Cavengt, Santiago: Dystrophy or Oppenheim-Werdnig-Hoffmann disease. Acta pediat. espan., 4, 759, 1946.Google Scholar
De Cordova, A.: Atrofia muscular de Werdnig-Hoffmann (15 cases). Riv. Cubana Ped., 29, 291, 1957.Google Scholar
De Medeiros, J.: Amyotonie - amyotrophic spinal syndrome of Werdnig-Hoffmann-Oppenheim; 2 cases. Pediatr. Prat., 27, 111, 1956.Google Scholar
Friederichs, H. F., Künberger, E. I.: Eredità delle atrofie muscolari progressive. Münch. Med. Wschr., 33, 702, 1957.Google Scholar
Hanhart, E.: Die infantile progressive spinale Muskelatrophie (Werdnig-Hoffmann) als einfach-rezessive, subletale Mutation auf Grund von 29 Fallen in 14 Sippen. Helvetica Paediatrica Acta, 1, 2, 110–113, 1945.Google Scholar
Brandt, S. Hanhart, E. Aspects génétiques des myopathies primitives, de l'atrophie spinale progressive infantile (Werdnig-Hoffmann) et de l'atrophie neurale (Charcot-Marie-Tooth). Acta Neurol, et Psych. Belgica, 2, 91–119, 1954.Google Scholar
Hardwick, E.: Werdnig-Hoffmann paralysis in elder of twins. Proc. Roy. Soc. Med., 30, 1071, 1937.CrossRefGoogle Scholar
Hasotte, A.: Syndrome myatonique grave de Werdnig-Hoffmann. Presse Méd., 59, 1707, 1951.Google Scholar
Heuyer, J., Leconte, , Lorsignol, S.: Amyotrophic familiale. Rev. Neurol., 71, 431, 1939.Google Scholar
Heuyer, J., e coll.: Werdnig-Hoffmann disease, case with anatomic findings. Rev. Neurol., 76, 94, 1944.Google Scholar
Heuyer, G.: Werdnig-Hoffmann in 2 sisters. Rev. Neurol., 78, 608, 1946.Google Scholar
Hoffmann, J.: Amyotrophie spinale chronique d'origine familiale chez l'enfant. Deutsche Zschr. Nervenh., 3, 427, 1893.Google Scholar
Levis, and Besant, : Muscolar distrophy in infancy. The journal of pediatrics, 376–384, 1962.Google Scholar
Leyrer, R. H.: Genetic study of progressive spinal muscular atrophy. Am. J. Human Genetics, 6, 387, 1954.Google Scholar
Leyrer, R. H. Case reports of progressive infantile muscular atrophy (Werdnig-Hoffmann) in fraternal twins. A.M.A. Am. J. Dis. Children, 88, 604–606, 1954.Google Scholar
Oggioni, G.: Mal di Werdnig-Hoffmann. Studio clinico-patologico. Rassegna Studi Psich., 24, 403, 1945.Google Scholar
Paisseau, , Sorrel, A. T. e coll.: Amyotrophy in uniovular twins. Rev. Neurol., 67, 567, 1937.Google Scholar
Poirier, R. e coll.: Infantile spinal progressive atrophy in twins. Canad. M.A.J., 65, 342, 1951.Google ScholarPubMed
Radermecker, J.: Amyotrophy. Arch. Méd. Belges, 89, 107, 1936.Google Scholar
Radermecker, J. Spinal amyotrophy of childhood (Werdnig-Hoffmann) as heredodegeneration. Rev. Neurol., 84, 14, 1951.Google Scholar
Rodier, P.: Pediatrie, 9, 1, 41, 1954.Google Scholar
Strahm, A.: Zbl. Gyn., 75, 630, 1953.Google Scholar
Thieffry, S., Arthuis, M., Bargeton, E.: Werdnig-Hoffmann disease 40 cases with 11 autopsies. Rev. Neurol., 93, 621–645, 1955.Google Scholar
Thums, : Myatonia congenita (Oppenheim) bei eineiigen Zwillingen. Z. Neur., 162, 233–251.Google Scholar
Weill, , Halle, e coll.: Congenital myatonia of Werdnig-Hoffmann type. Bull. Soc. Péd., Paris, 33, 661, 1935.Google Scholar