Balkan Journal of Medical Genetics

EARLY ONSET MARFAN SYNDROME: ATYPICAL CLINICAL PRESENTATION OF TWO CASES
Ozyurt A, Baykan A, Argun M, Pamukcu O, Halis H, Korkut S, Yuksel Z, Gunes T, Narin N
*Corresponding Author: Abdullah Ozyurt, M.D., Division of Pediatric Cardiology, Erciyes University Faculty of Medicine, Kayseri, Turkey, 38039. Tel: +903522076666, Ext. 25036. Fax: +903524375825. E-mail: duruozyurt@yahoo.com.tr
page: 71

REFERENCES

1. HennekamRC. Severe infantile Marfan syndrome versus neonatal Marfan syndrome. Am J Med Genet A. 2005; 139(1): 1. 2. Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, et al. Classic, atypically severe and neonatal Marfan syndrome: Twelve mutations and genotype phenotype correlations in FBN1 exons 24-40. Eur J Hum Genet. 2001; 9(1): 13-21. 3. Kirschner R, Hubmacher D, Iyengar G, Kaur J, Fagotto-Kaufmann C, BrömmeD, et al. Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function. J Biol Chem. 2011; 286(37): 32810-32823. 4. Apitz C, Mackensen-Haen S, Girisch M, Kerst G, Wiegand G, Stuhrmann M, et al. Neonatal Marfan syndrome: Unusually large deletion of exons 24-26 of FBN1 associated with poor prognosis. Klin Pediatr. 2010; 222(4): 261-263. 5. Faivre L, Masurel-Paulet A, Collod-Beroud G, 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 1009 probands with pathogenic FBN1 mutations. Pediatrics. 2009; 123(1): 391-398. 6. Milewicz DM, Duvic M. Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15. Am J Hum Genet. 1994; 54(3): 447-453. 7. Strigl S, Quagebeur JM, Gersony WM. Quadrivalvar replacement in infantile Marfan syndrome. Pediatr Cardiol. 2007; 28(5): 403-405. 8. Tekin M, Cengiz FB, Ayberkin E, Kendirli T, Fitoz S, Tutar E, et al. Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene. Am J Med Genet A. 2007; 143A(8): 875-880. 9. Elshershari H, Harris C. Paternal fibrillin-1 mutation transmitted to an affected son with neonatal marfan syndrome: The importance of early recognition. Cardiol Young. 2014; 24(4): 735-738. 10. Loeys BL, Dietz HC, BravermanAC, Callewaert BL, De Backer J, Devereux RB, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010; 47(7): 476-485. 11. Frank RE Jr. Supraventricular tachycardia vs. Marfan’s syndrome. J Insur Med. 1997; 29(3): 204-207. 12. Yetman AT, Temple J, Erickson CC. Radio frequency ablation of a left-sided atrioventricular pathway in a patient with Marfan syndrome. Cardiol Young. 2002; 12(5):494-495. 13. Porciani MC, Attanasio M, Lepri V, Lapini I, Demarchi G, Padeletti L, et al. Prevalence of cardiovascular manifestations in Marfan syndrome. Ital Heart J Suppl. 2004; 5(8): 647-652. 14. Mégarbané A, Hokayem N. Craniosynostosis and marfanoid habitus without mental retardation: Report of a third case. Am J Med Genet. 1998; 77(2): 170-171.

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