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Contributo allo studio dell'ereditarietà della S. di Marfan. Descrizione di un albero genealogico di quattro generazioni con un matrimonio fra consanguinei affetti

Published online by Cambridge University Press:  01 August 2014

L. Capotorti ,
R. Gaddini De Benedetti  and
P. Rizzo
L. Capotorti
Affiliation:
Istituto di Clinica Pediatrica, dell'Università di Roma Istituto di Clinica Oculistica, dell'Università di Roma
R. Gaddini De Benedetti
Affiliation:
Istituto di Clinica Pediatrica, dell'Università di Roma Istituto di Clinica Oculistica, dell'Università di Roma
P. Rizzo
Affiliation:
Istituto di Clinica Pediatrica, dell'Università di Roma Istituto di Clinica Oculistica, dell'Università di Roma

Summary

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The AA. have studied the pedigree of a family with Marfan's Syndrome (M.S.) including 90 persons of four generations. 37 subjects were examined both from a general and from an ophcalmological point of view. Furthermore reliable informations have been obtained about 13 more subjects related with them. Out of the total of 50 persons about whom the A A. have gathered sufficient evidence, 22 turned out to be affected by « ectopia lentis », 20 by various skeletal malformations, all of them included in the general picture of M.S. In 5 more cases some signs of cardiac involvement have been found. The percentage of affected subjects in the whole family was 40%, whereas the hereditary transmission of this syndrome appeared to be typical of a presumably single autosomal dominant character.

This is the first report in the literature of a consanguineous marriage between two subjects both affected by M.S. Out of 9 children who were born from this couple, 4 presented the M.S. (2 of them in a particularly severe form), 3 died during infancy, one was a stillborn and only one was a healthy individual.

The number of cases of this syndrome described in the medical literature is in continuous increase. Furthermore the growing prominence it is assuming in general medicine, owing to the skeletal, cardiac and vascular anomalies, stimulates to a more thorough knowledge of its hereditary transmission, in the hope of achieving a useful social prophylaxis.

Conclusioni riassuntive

CONCLUSIONI RIASSUNTIVE

Gli AA. hanno studiato un albero genealogico di sindrome di Marfan (aracnodattilia, « ectopia lentis » e malformazioni multiple), comprendente 90 soggetti distribuiti in 4 generazioni. Di questi 37 sono stati sottoposti a visita generale ed oculistica, e di altri 13 si sono avute informazioni sufficientemente dettagliate dai familiari. Sul totale di 50 persone di cui si hanno notizie, 22 erano affette da « ectopia lentis », 20 da malformazioni scheletriche rientranti nella s. di Marfan e 5 presentavano sintomi cardiaci (2 di questi defunti).

La percentuale complessiva dei soggetti malati rispetto a quelli sani fu del 44%, ed il tipo di trasmissione ereditaria della sindrome fu quello di carattere autosomico dominante, presumibilmente unico.

Per la prima volta nella letteratura viene riportato il caso del matrimonio fra consanguinei entrambi affetti da s. di Marfan. Dei 9 figli di questa coppia 4 presentavano la s. di Marfan (2 di essi in maniera particolarmente grave), 3 decedettero nella prima infanzia, 1 fu abortivo e solo 1 risultò sano.

Il numero sempre maggiore di casi s. di Marfan descritti nella letteratura, e l'importanza crescente da essa assunta in medicina generale, oltre che in oculistica, per le deformità scheletriche e le malformazioni del cuore e dei grossi vasi che in esso si incontrano, rende necessaria una esatta conoscenza della sua genetica, ai fini di una attiva profilassi sociale.

Résumé

RÉSUMÉ

Les AA. ont étudié un arbre généalogique d'une famille avec syndrome de Marfan comprenant 90 sujets répartis en quatre génératiens. De ceux-ci 37 ont été soumis à une visite générale et ophtalmologique, et on a pu obtenir des informations suffisamment détaillées sur 13 autres. Sur 50 personnes sur lesquelles on a des renseignements, 22 étaient affectées de « ectopia lentis », 20 de malformations squelettiques entrant dans le cadre du syndrome de Marfan, et 5 présentaient des symptômes cardiaques.

Au total le pourcentage des sujets malades par rapport aux sujets sains était de 40%, et le type de transmission héréditaire de ce syndrome était à caractère autosomique dominant, vraisemblablement unique.

Pour la première fois dans la littérature on rapporte un cas de mariage entre consanguins tous deux affectés de syndrome de Marfan. Sur 9 enfants de ce couple, 4 présentaient le syndrome de Marfan (dont 2 de manière particulièrement grave), 3 moururent dans la première enfance, 1 fut abortif et un seul ne présentait aucun trouble. Le nombre toujours croissant des cas de ce syndrome décrits dans la littérature, et l'importance croissante qu 'il revête en médecine générale en raison des malformations squelettiques, cardiaques et vasculaires, rendent nécessaire une connaissance précise de son hérédite pour permettre une prophylaxie sociale.

Zusammenfassung

ZUSAMMENFASSUNG

Die AA. haben den Stammbaum einer vom Marfan Syndrom befallenen Familie studiert, indem man bis auf vier Generationen (90 Personen) zurückgrift. Von diesen wurden 37 einer allgemeinen sowie einer sorgfältigen ophtalmologischen Untersuchung unterzogen; über übrige 13 konnte man verlässliche Informationen einholen. Von 50 Personen, über welche klare Zeugnisse vorlagen, waren 22 von « ectopia lentis » befallen, 20 hatten verschiedene Missbildungen des Skeletts, die im Bereiche des Marfan Syndroms liegen und 5 zeigten Symptome von Herzfehlern.

Der Prozentsatz der kranken im Hinblick auf die gesunden Versuchspersonen betrug 40% und der Fall erblicher Uebertragung dieses Syndroms schien mit einem vermutlich einzigen autosomisch dominierenden Charakter typisch zu sein.

Zum erstenmale wird in der Literatur der Fall einer Heirat von Blutsverwandten, beide vom Marfan Syndrom befallen, rapportiert. Von den 9 Kindern dieses Paars zeigten 4 das M.S. (wovon 2 in schwerem Ausmasse), 3 starben in frühster Kindheit, eines war eine Fehlgeburt und nur ein einziges zeigte keine Schäden.

Die ständig wachsende Zahl der Fälle dieses in der medizinischen Literatur beschriebenen Syndroms und die wachsende Wichtigkeit, welche es in der Medizin allgemein hinsichtlich der Missbildungen des Skeletts, des Herzens und der Vascularien einnimmt, erfordern eine genaue Kenntnis seiner erblichen Uebertragung, um eine soziale Prophylaxis zu erreichen.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 8 , Issue 4 , October 1959 , pp. 455 - 482
Copyright
Copyright © The International Society for Twin Studies 1959

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