Marfan syndrome masked by Down syndrome?

Netherlands Heart Journal

Volumn 17, Issue 9, 2009, Pages 345-348

  Vis, J C ^a   Van Engelen, K ^a   Timmermans, J ^a   Hamel, B C ^b   Mulder, B J M ^a,c  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Coexistence; Down syndrome; FBN1; Marfan syndrome; Trisomy 21

Indexed keywords

FIBRILLIN 1;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CHROMOSOME ABERRATION; CLINICAL FEATURE; DOWN SYNDROME; ECHOCARDIOGRAPHY; EYE EXAMINATION; FEMALE; GENE EXPRESSION; GENE MUTATION; HUMAN; KARYOTYPING; MARFAN SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHYSICAL EXAMINATION;

EID: 71749094330     PISSN: 15685888     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03086281     Document Type: Article

References (15)

1. Frid C, Drott P, Lundell B, Rasmussen F, Anneren G. Mortality in Down's syndrome in relation to congenital malformations. J Intellect Disabil Res. 1999;43(Pt 3):234-241 (Pubitemid 29271631)
2. Judge DP, Dietz HC. Marfan's syndrome. Lancet. 2005;366:1965-1976
3. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996;62:417-426 (Pubitemid 26131122)
4. Ho NC, Tran JR, Bektas A. Marfan's syndrome. Lancet. 2005;366:1978-1981
5. Comeglio P, Johnson P, Arno G, Brice G, Evans A, Ragon-Martin J, et al. The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. Hum Mutat. 2007;28:928.
6. Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet. 2004;36:855-860 (Pubitemid 39014103)
7. Dupre A , Bonafe JL. Syringomas mongolism, Marfan's disease and Ehlers-Danlos' disease. Ann Dermatol Venereol. 1997;104:224-230
8. Meyer J, Weill J, Guilaine J. Syndrome d' Ehlers-Danlos. EMC Pediatrie. 1956;10:12.
9. Schachter MA. Arrieration Mongolienne et syndrome d' Ehlers-Danlos: a propos d'une observation. Rome: Ediz Medica SpA; 1956.
10. Korting GW. Atlas de dermatologie pediatrique. Paris: Masson; 1969, p. 98.
11. Pasmatzi E, Vlastos D, Monastirli A, Stephanou G, Georgious S, Sakkis T, et al. Ehlers-Danlos type IV syndrome in a patient with Down syndrome: simple co-occurrence or true association? Am J Med Sci. 2006;331:48-50.
12. Liu WO, Oefner PJ, Qian C, Odom RS, Francke U. Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. Genet Test. 1997;1:237-242 (Pubitemid 128537147)
13. American Academy of Pediatrics: Health supervision for children with Down syndrome. Pediatrics. 2001;107:442-449
14. Giampietro PF, Raggio C, Davis JG. Marfan syndrome: orthopedic and genetic review. Curr Opin Pediatr. 2002;14:35-41. (Pubitemid 34169567)
15. Concolino D, Pasquzzi A, Capalbo G, Sinopoli S, Strisciuglio P. Early detection of podiatric anomalies in children with Down syndrome. Acta Paediatr. 2006; 95:17-20. (Pubitemid 43041724)