Importance of dural ectasia in phenotypic assessment of Marfan's syndrome

Lancet

Volumn 354, Issue 9182, 1999, Pages 910-913

  Fattori, Rossella ^a   Nienaber, Christoph A ^b   Descovich, Benedetta ^a   Ambrosetto, Paolo ^a   Bacchi Reggiani, Letizia ^a   Pepe, Guglielmina ^c   Kaufmann, Ursula ^b   Negrini, Elena ^a   Von Kodolitsch, Yskert ^b   Gensini, Gian Franco ^d  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d CAREGGI UNIVERSITY HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGE; AORTA DISEASE; ARTERY DILATATION; ARTICLE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DISEASE SEVERITY; DURA MATER; FEMALE; HUMAN; LUMBOSACRAL SPINE; MAJOR CLINICAL STUDY; MALE; MARFAN SYNDROME; MENINGOCELE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; THORACIC AORTA;

EID: 0033546937     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(98)12448-0     Document Type: Article

References (23)

1. Dietz H.C., Pyeritz R.E. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet. 4:1995;1799-1809.
2. Eldadah Z.A., Brenn T., Furthmayr H., Dietz H.C. Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype. J Clin Invest. 95:1995;874-880.
3. Pyeritz R.E., Francke U. Conference report: the second international symposium on the Marfan syndrome. Am J Med Genet. 47:1993;127-135.
4. Milewicz D.M., Michael K., Fisher N., Coselli J.S., Markollo T., Biddinger A. Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. Circulation. 94:1996;2708-2711.
5. Shores J., Berger K.R., Murphy E.A., Pyeritz R.E. Progression of aortic dilatation and benefit of long term β-adrenergic blockade in Marfan's syndrome. N Engl J Med. 330:1994;1335-1341.
6. Zanhka K.G., Hensley C., Glesby M., Pyeritz R.E. The impact of medical and surgical therapy on the cardovascular prognosis of the Marfan syndrome in early childhood. J Am Coll Cardiol. 13( ):1989;119A. (abstr).
7. Silverman D.I., Burton K.J., Gray J.et al. Life expectancy in the Marfan syndrome. Am J Cardiol. 75:1995;157-160.
8. Glesby M.J., Pyeritz R.E. Association of mitral valve prolapse and systemic abnormalities of connective tissue: a phenotypic continuum. JAMA. 262:1989;523-528.
9. Beighton P., de Paepe A., Danks D.et al. International nosology of heritable disorders of connective tissue, Berlin, 1986. Am J Med Genet. 29:1988;581-594.
10. De Paepe A., Devereux R.B., Dietz H.C., Hennekam C.M., Pyeritz R.E. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 62:1996;417-426.
11. Pepin M.G., Superti-Furga A., Byers P.H. Natural history of Ehlers-Danlos syndrome type IV: review of 137 cases. Am J Hum Genet. 5:1992;A44.
12. Conference statement: neurofibromatosis. National Institutes of Health Consensus Development Conference. Arch Neurol. 45:1988;575-578.
13. Nelson J. The Marfan syndrome, with special reference to congenital enlargement of the spinal canal. Br J Radiol. 31:1958;561-564.
14. Soulen R.L., Fishman E.K., Pyeritz R.E., Zerhouni E.A., Pessar M.L. Marfan syndrome: evaluation with MR imaging versus CT. Radiology. 165:1987;697-701.
15. Pyeritz R.E., Fishman E.K., Bernahardt B.A., Siegelman S.S. Dural ectasia is a common feature of the Marfan syndrome. Am J Hum Genet. 43:1988;726-732.
16. Raftopoulos C., Delecluse F., Braude P.h., Rodesh C., Brotchi J. Anterior sacral meningocele and Marfan syndrome: a review. Acta Chir Belg. 93:1993;1-7.
17. Sterm W.E. Dural ectasia and the Marfan syndrome. J Neurosurg. 69:1988;221-227.
18. Smith M.D. Large sacral dural defect in Marfan syndrome: a case report. J Bone Joint Surg. 75:1993;1067-1070.
19. Duncan R.W., Esses S. Marfan syndrome with back pain secondary to pedicular attenuation. Spine. 20:1995;1197-1198.
20. Sonier C.B., Buhe T., Despins P.h., Delumeau J., de Kersaint-Gilly A. Pseudoméningocèle sacrée et maladie de Marfan. J Neuroradiol. 20:1993;292-296.
21. Mitchell G.E., Lourie H.L., Berne A.S. The various causes of scalloped vertebrae with notes on their pathogenesis. Radiology. 89:1967;67-74.
22. Roman M.J., Devereux R.B., Kramer-Fox R., O'Loughlin J., Spitzer M., Robins J. Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am J Cardiol. 64:1989;507-512.
23. Legget M.E., Unger T.A., O'Sullivan C.K.et al. Aortic root complications in Marfan's syndrome: identification of a lower risk group. Heart. 75:1996;389-395.