Marfan-Like Syndrome With Lens Involvement

Cotlier, Edward

doi:10.1001/archopht.1975.01010020099001

Cited by 18 publications

(1 citation statement)

References 31 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Since monozygotic twinning is thought to occur most frequently at the blastocyst stage (Langman 1969 (Cotlier & Reinglass 1975). This mutation could have arisen in either of the germ cells, in which case the differences between these original twins could be due to intra-andlor extrauterine environmental differences.…”

Section: Dlscusslonmentioning

confidence: 99%

Variable expression of Marfan syndrome in monozygotic twins

1975

View full text Add to dashboard Cite

A pair of monozygotic twins with the Marfan syndrome with variable expression is presented. One of the twins, in addition to more severe musculoskeletal and ocular manifestations, had coarctation of the aorta as the cardiovascular manifestation of this syndrome. Analysis of red cell antigens, serum proteins and dermatoglyphic examination suggests a high probability of monozygosity. Accordingly, the variation in expression of this autosomal dominant disorder between the twins is most likely due to the modifying influences of environmental factors. Also noteworthy is the fact that the resected coarctation tissue domonstrated the histopathologic changes characteristic of cystic medial necrosis, and thus served as an additional piece of evidence supporting the diagnosis of the Marfan syndrome. This was of particular importance in view of the absence of any family history of this syndrome and the absence of ectopia lentis or the more typical cardiovascular manifestations in either twin.

show abstract

Section: Dlscusslonmentioning

confidence: 99%