Revised diagnostic criteria for the Marfan syndrome.

@article{DePaepe1996RevisedDC,
  title={Revised diagnostic criteria for the Marfan syndrome.},
  author={Anne De Paepe and Richard B. Devereux and Harry C. Dietz and Raoul C.M. Hennekam and Reed E. Pyeritz},
  journal={American journal of medical genetics},
  year={1996},
  volume={62 4},
  pages={
          417-26
        }
}
In 1986, the diagnosis of the Marfan syndrome was codified on the basis of clinical criteria in the Berlin nosology [Beighton et al., 1988]. Over time, weaknesses have emerged in these criteria, a problem accentuated by the advent of molecular testing. In this paper, we propose a revision of diagnostic criteria for Marfan syndrome and related conditions. Most notable are: more stringent requirements for diagnosis of the Marfan syndrome in relatives of an unequivocally affected individual… 

Cardiovascular characteristics in Marfan syndrome and their relation to the genotype

The study of cardiovascular manifestations of MFS which localize beyond the aortic root and on the presently unknown relationship between the severity of the cardiovascular phenotype and the genotype is focused on.

Recent developments in the diagnosis of Marfan syndrome and related disorders

Modifications of the diagnostic criteria have recently been published, facilitating the differentiation of Marfan syndrome from these conditions.

The revised Ghent nosology for the Marfan syndrome

A revised Ghent nosology is established, which puts more weight on the cardiovascular manifestations and in which aortic root aneurysm and ectopia lentis are the cardinal clinical features and may delay a definitive diagnosis of MFS but will decrease the risk of premature or misdiagnosis.

The Neurosurgical Manifestations of Marfan Syndrome

This chapter focuses on the diagnosis and management of Marfan’s syndrome and discusses some of the other possible spinal and cerebro-vascular sequelae of MFS relevant to neurosurgical practice.

Value of molecular diagnosis in a family with Marfan syndrome and an atypical vascular phenotype.

The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome

“Marfan‐like” features are not exclusively indicative of MFS but also of numerous, alternative inherited diseases with many of them carrying a hitherto poorly defined cardiovascular risk and require future study to characterize their responses to therapy and long‐term prognosis.

The Early Diagnosis of the Marfan Syndrome: What is the Role of the Pediatric Dentist?

The aim of this article was to describe through two cases the orofacial manifestations of Marfan syndrome and to demonstrate the role of the pediatric dentist in the early diagnosis of this genetic defect from the oral pathognomonic signs of this syndrome.

Diagnosis and management of Marfan syndrome.

Marfan syndrome is a disorder of the connective tissue that is inherited in an autosomal-dominant fashion and is caused by mutations in the gene coding for fibrillin-1, FBN1. Although complications

A comparison of the Berlin and Ghent nosologies and the influence of dural ectasia in the diagnosis of Marfan syndrome

Determination of dural ectasia is valuable in the diagnosis of Marfan syndrome, and some patients are appropriately excluded from the diagnosis by the Ghent criteria.

Neonatal Marfan syndrome: clinical report and review of the literature

The progress of a 4-year-old boy with neonatal Marfan syndrome and severe cardiac involvement is described, with a de novo point mutation in exon 29 of the FBN1 gene located on chromosome 15q21.1.
...

References

SHOWING 1-10 OF 44 REFERENCES

Dural ectasia is a common feature of the Marfan syndrome.

Dural ectasia can be added to the list of pleiotropic manifestations of the Marfan syndrome and vertebral abnormalities were associated with neither any other clinical feature nor overall phenotypic severity.

A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome.

The results document the usefulness of novel polymorphic DNA repeat sequences in the presymptomatic diagnosis of Marfan's syndrome and demonstrate that the various clinical phenotypes seen in selected families may be due not to single fibrillin mutations, but rather to different genetic alterations.

Formes frustes of Marfan's syndrome presenting with severe aortic regurgitation. Clinicogenetic study of 18 families.

There was nothing in the data to suggest that the formes frustes of the disease had a different mode of inheritance from the classical syndrome, and no relatives with dislocation of the lens or iridodonesis were studied.

Location on chromosome 15 of the gene defect causing Marfan syndrome.

The chromosomal localization of the mutation in Marfan syndrome is a first step toward the isolation and characterization of the defective gene and serves as a diagnostic test in families in which cosegregation of these markers with the disease has been confirmed.

Life expectancy in the Marfan syndrome.

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Fibrillin is implicate as the protein defective in patients with the Marfan syndrome and a de novo missense mutation in the fibrillin gene is described in two patients with sporadic disease.

The Cardiovascular Aspects of Marfan's Syndrome: A Heritable Disorder of Connective Tissue

Cardiac symptoms in severe pectus excavatum must be evaluated in light of possible Marfan's disease and interatrial septal defect is less frequent than previously believed.

A second locus for Marfan syndrome maps to chromosome 3p24.2–p25

By excluding the chromosome 15 disease locus, fibrillin 1 (FBN1), in a large French family with typical cardiovascular and skeletal anomalies, the issue of genetic heterogeneity in MFS and the implication of a second locus (MFS2) is raised.