The Marfan syndrome in childhood: Features, natural history and differential diagnosis

Progress in Pediatric Cardiology

Volumn 5, Issue 3, 1996, Pages 151-157

  Pyeritz, Reed Edwin ^a  

^a ALLEGHENY GENERAL HOSPITAL   (United States)

Author keywords

Diagnosis; Marfan syndrome; Pediatrics; Phenotype

Indexed keywords

AORTA ROOT; CHILD; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; ECTOPIA LENTIS; HUMAN; MARFAN SYNDROME; MITRAL VALVE PROLAPSE; PHENOTYPE; PRIORITY JOURNAL; REVIEW; TALL STATURE;

EID: 0030176210     PISSN: 10589813     EISSN: None     Source Type: Journal    
DOI: 10.1016/1058-9813(96)00160-9     Document Type: Article

References (34)

1. [1] Arn PH, Scherer LR, Haller JA Jr, Pyeritz RE. Clinical outcome of pectus excavatum in the Marfan syndrome and in the general population. J Pediatr 1989;115:954-958.
2. [2] Beals RK, Hecht F. Congenital contractural achnodactyly: a heritable disorder of connective tissue. J Bone Joint Surg 1971;53A:987-993.
3. [3] Beighton P, de Paepe A, Danks D, Finidori G, Gedde-Dahl T, Goodman R, Hall JG, Hollister DW, Horton W, McKusick VA, Opitz JM, Pope FM, Pyeritz RE, Rimoin DL, Sillence D, Spranger JW, Thompson E, Tsipouras P, Viljoen D, Winship I, Young I. International nosology of heritable disorders of connective tissue, Berlin, 1986. Am J Med Genet 1988;29:581-594.
4. [4] DePaepe A, Deitz HC, Devereux RB, Hennekem R, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996;62:417-426.
5. [5] Dietz H, Francke U, Furthmayr H, Francomano C, DePaepe A, Devereux R, Ramirez F, Pyeritz R. The question of heterogeneity in Marfan syndrome. Nature Genet 1995;9:228-9.
6. [6] Dietz HC, Pyeritz RE. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Molec Genet 1995;4:1799-1809
7. [7] Glesby MJ, Pyeritz RE. Association of mitral valve prolapse and systemic abnormalities of connective tissue: a phenotypic continuum. J Am Med Assoc 1989;262:523-528.
8. [8] Grahame R, Pyeritz RE. Marfan syndrome: Joint and skin manifestations are prevalent and correlated. Br J Rheumatol 1995;34:126-31.
9. [9] Hall J, Pyeritz RE, Dudgeon DL, Haller JA Jr. Pneumothorax in the Marfan syndrome: Prevalence and therapy. Ann Thorac Surg 1984;37:500-504.
10. [10] Hofman KJ, Bernhardt BA, Pyeritz RE. Marfan syndrome: Neuropsychological aspects. Am J Med Genet 1988;31:331-338.
11. [11] Kuhlman JE, Scott WW Jr, Fishman EK, Pyeritz RE, Siegelman SS. Acetabular protrusion in the Marfan syndrome. Radiology 1987;164:415-417.
12. [12] Lima SD, Lima JAC, Pyeritz RE, Weiss JL. Relationship of mitral valve prolapse to left ventricular size in Marfan's syndrome. Am J Cardiol 1985;55:739-743.
13. [13] Marfan AB. Un cas de déformation congénital des quatre membres plus pronouncée aux extrémitiés charactérisée par l'allongement des os avec un certain degré d'amonassesment. Bullitens et Mémoires de la Societe Médicalses Hôpital (Paris) 1896;13:220-226.
14. [14] Maumenee IH. The eye in the Marfan syndrome. Trans Am Ophthalmol Soc 1981;79:684-733.
15. [15] Morse RP, Rockenmacher S, Pyeritz RE, Sanders SP, Bieber FR, Lin A, MacLeod P. Hall B, Graham JM Jr. Diagnosis and management of Marfan syndrome in infants. Pediatrics 1990;86:888-895.
16. [16] Murdoch JL, Walker BA, Halpern BL et al. Life expectancy and causes of death in the Marfan syndrome. N Engl J Med 1972;286:804-808.
17. [17] Murdoch JL, Walker BA, McKusick VA. Paternal age effects on the occurrence of new mutations for the Marfan syndrome. Ann Hum Genet 1972;35:331-336.
18. [18] Pereira L, Levran O, Ramirez F, Lynch JR, Sykes B, Pyeritz RE, Dietz HC. A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome. N Engl J Med 1994;331:148-53.
19. [19] Phornphutkul C, Rosenthal A, Nadas AC. Cardiac manifestations of Marfan syndrome in infancy and childhood. Circulation 1973;47:587-596.
20. [20] Pyeritz RE. Pleiotropy revisited: Molecular explanations of a classic concept. Am J Med Genet 1989B;34:124-134.
21. [21] Pyeritz RE. The Marfan syndrome. In: Royce PM, Steinmann B, editors. Connective Tissue and Its Heritable Disorders: Molecular, Genetic and Medical Aspects. New York: Wiley-Liss, 1993;437-468.
22. [22] Pyeritz RE. Disorders of fibrillins and microfibrilogenesis: Marfan syndrome, MASS phenotype, contractural arachnodactyly and related conditions. In: Rimoin DL, Connor JM and Pyeritz RE, editors. Principles and Practice of Medical Genetics, 3rd edn. New York: Churchill Livingstone. (1996) In press.
23. [23] Pyeritz RE. Risk factors for aortic dissection in the Marfan syndrome. Am J Med Genet 1993;47:156.
24. [24] Pyeritz RE, Fishman EK, Bernhardt BA, Siegelman SS. Dural ectasia is a common feature of the Marfan syndrome. Am J Hum Genet 1988;43:726-732.
25. [25] Pyeritz RE, Wappel MA. Mitral valve dysfunction in the Marfan syndrome. Am J Med 1983;74:797-807.
26. [26] Roman MJ, Devereux RB, Kramer-Fox R, O'Loughlin J. Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am J Cardiol 1989;64:507-512.
27. [27] Scherer LR, Arn PH, Dressel D, Pyeritz RE, Haller JA Jr. Surgical management of children and young adults with the Marfan syndrome and pectus excavatum. J Pediatr Surg 1988;23:1169-1172.
28. [28] Shores J, Berger KR, Murphy EA, Pyeritz RE. Chronic β-adrenergic blockade protects the aorta in the Marfan syndrome: a prospective, randomized trial of propranolol. N Engl J Med 1994;330:1335-41.
29. [29] Silverman DI, Gray J, Roman MJ et al. A family history of severe cardiovascular disease in the Marfan syndrome is associated with increased aortic diameter and decreased survival. J Am Coll Cardiol, 1995;26:1062-1067
30. [30] Sisk HE, Zahka KG, Pyeritz RE. The Marfan syndrome in early childhood: Analysis of 15 patients diagnosed less than 4 years of age. Am J Cardiol 1983;52:353-358.
31. [31] Sponseller PD, Hobbs W, Riley LH III, Pyeritz RE. The thoracolumbar spine in Marfan syndrome. J Bone Joint Surg 1995;77A:867-76.
32. [32] Streeten EA, Murphy EA, Pyeritz RE. Pulmonary function in the Marfan syndrome. Chest 1987;91:408-412.
33. [33] Zhang H, Apfelroth SD, Hu W, Davis EC, Sanguineti C, Bonadio J, Mecham RP, Ramirez F. Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices. J Cell Biol 1994;124:855-863.
34. [34] Zhang H, Hu W, Ramirez F. Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils. J Cell Biol 1995;129:1165-1176.