Arachnodactyly (Marfan's Syndrome) Associated with Ectopia Lentis

Cassady, J. V.; McFarland, Corley B.

doi:10.1016/0002-9394(47)91186-0

Cited by 5 publications

(2 citation statements)

References 9 publications

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“…With a long history and diverse etiology (trauma, pseudoexfoliative syndrome, systemic diseases or as a single entity), the association of ectopia lentis with Marfan's syndrome was made only in 1923 by Ormond and Williams [1][2][3][4]. They reported that the patients suffering from arachnodactyly, one of the early terms defining the Marfan's syndrome, also had a large range of eye problems, among which iridodonesis and ectopia lentis [2,3].…”

Section: Introductionmentioning

confidence: 99%

Ectopia lentis surgery in Marfan’s syndrome: from “couching” to the use of intracapsular tension rings

Dogăroiu

Dogaroiu

Tătaru

2022

rjo

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Section: Introductionmentioning

confidence: 99%

Ectopia lentis surgery in Marfan’s syndrome: from “couching” to the use of intracapsular tension rings

Dogăroiu

Dogaroiu

Tătaru

2022

rjo

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“…appartenenti a 6 ceppi familiari. Descrizioni di alberi genealogici piu o meno estesi apparvero successivamente nei lavori di King (1934), Viallefont e Temple (1934), Becker (1935), Lloyd (1935Lloyd ( e 1937, Bueeklers (1935) Burch (1936, Mathis (1940), Harrison e Klainer (1939), Sironi (1942), Jequier (1943), Pasachoff, Madonick e Drayer (1944), Bietti (1945), Kahrs (1945), Cassady e Mc Farland (1947), Lutman e Neel ), Mc Kusick (1955, Bellavia (1955), Black e Landay (1955), Wilson (1957)5 Francois (1958 etc. II caso venuto sotto la nostra osservazione riguarda una bambina di due anni affetta da segni scheletrici ed oculari della s. di Marfan, in cui l'anamnesi familiare dimostrava la presenza deH'affezione in numerosi membri della famiglia.…”

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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

Capotorti

Benedetti

Rizzo

1959

Acta genet. med. gemellol.

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SUMMARYThe 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.

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Das „Marfan-Syndrom“

Versé¹

1959

Ergebnisse Der Inneren Medizin Und Kinderheilkunde

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Arachnodactyly (Marfan's Syndrome) Associated with Ectopia Lentis

Cited by 5 publications

References 9 publications

Ectopia lentis surgery in Marfan’s syndrome: from “couching” to the use of intracapsular tension rings

Ectopia lentis surgery in Marfan’s syndrome: from “couching” to the use of intracapsular tension rings

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

Das „Marfan-Syndrom“

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