Aviña FJA, Hernández ADA

Language: Spanish
References: 17
Page: 236-241
PDF size: 178.50 Kb.

ABSTRACT

Marfan syndrome is a connective-tissue disease, affecting the cardiovascular, optical and skeletal systems, with significant morbidity and mortality; inherited in an autosomal dominant fashion, classically caused by mutations in the gene coding for fibrillin (FBN). The incidence is about one in 5,000, with life expectancy severely reduced because of cardiovascular complications. The diagnosis is achieved using the Gante criteria, a group of clinical findings that have high specificity for the syndrome. Marfanoid patients have phenotypic findings but do not meet all diagnostic criteria of Marfan. The increasing spectrum of syndromes associated with Marfan-like features need an early accurate differential diagnosis, to establish treatment that prevents severe complications.

REFERENCES

1. Robinson PN, Godfrey M. The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet 2000; 37 (1): 9-25.

2. Stheneur C, Oberkampf B, Chevallier B. Marfan syndrome: diagnostic criteria and molecular biology contribution. Arch Pediatr 2008; 15(5): 564-7.

3. De Paepe A, Devereux RB, Dietz HC, Hennekan RCM, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996; 62(4): 417-26.

4. Giacheti CM, Zanchetta S, Maranhe E, Cassab TV, Abramides DV, Souza DH et al. A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities. Am J Med Genet A 2007; 143A(17): 3137-9.

5. Rybczynski M, Bernhardt AM, Rehder U, Fuisting B, Meiss L, Voss U et al. The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome. Am J Med Genet A 2008; 146A(24): 3157-66.

6. Attias D, Stheneur C, Roy C, Collod BG, Detaint D, Faivre L et al. Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation 2009; 120(25): 2541-9.

7. Chung BH, Lam ST, Tong TM, Li SY, Lun KS, Chan DH et al. Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. Am J Med Genet A 2009; 149A(7): 1452-9.

8. Faivre L, Masurel PA, Collod BG, Callewaert BL, Child AH, Stheneur C et al. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1,009 probands with pathogenic FBN1 mutations. Pediatrics 2009; 123(1): 391-8.

9. Azzabi S, Barhoumi A, Omar S, Ben Hassine L, Chérif E, Kooli C et al. Late revelation of homocystinuria: clinical, biological and progressive aspects. Pathol Biol (Paris) 2009; 57(5): 451-5.

10. Rebelo CC, Furtado JM, Honjo RS, Veiga KF, Ramos ES, Ferraz VE et al. Iris coloboma, blepharophimosis, arachnodactyly, joint contractures: Beals syndrome and Van den Ende-Gupta syndrome phenotypic similarities. Clin Dysmorphol 2009; 18(3): 142-4.

11. Rose PS, Levy HP, Liberfarb RM, Davis J, Szymko BY, Rubin BI et al. Stickler syndrome: clinical characteristics and diagnostic criteria. Am J Med Genet A 2005; 138A(3): 199-207.

12. Adés LC. Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases. Clin Dysmorphol 2008; 17(4): 243-8.

13. Bravo JF. Ehlers-Danlos syndrome, with special emphasis in the joint hypermobility syndrome. Rev Med Chil 2009; 137(11): 1488-97.

14. Van Buggenhout G, Fryns JP. Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). Orphanet J Rare Dis 2006; 1: 26.

15. Robinson PN, Neumann LM, Demuth S, Enders H, Jung U, König R et al. Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. Am J Med Genet A 2005; 135(3): 251-62.

16. Duncan PA. The Achard syndrome. Birth Defects Orig Artic Ser 1975; 11(6): 69-73.

17. Iams HD. Diagnosis and management of Marfan syndrome. Curr Sports Med Rep 2010; 9(2): 93-8.