Williams syndrome without cardiovascular anomalies;Sindrome di Williams in assenza di anomalie cardiovascolari

Minerva Pediatrica

Volumn 50, Issue 11, 1998, Pages 467-471

  Cincinnati, P ^a,c   Genuardi, M ^b   Rutiloni, C ^a  

^a Qspedale E de Santis   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

^c NONE   (Italy)

Author keywords

Cardiovascular abnormalities; Elastin genetics; Haemodynamics; Williams syndrome

Indexed keywords

ARTICLE; CARDIOVASCULAR DISEASE; CASE REPORT; CHROMOSOME 7; CHROMOSOME ABERRATION; CHROMOSOME DISORDER; GENETICS; HEMODYNAMICS; HUMAN; MALE; PRESCHOOL CHILD; WILLIAMS BEUREN SYNDROME;

CARDIOVASCULAR DISEASES; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 7; HEMODYNAMIC PROCESSES; HUMANS; MALE; WILLIAMS SYNDROME;

EID: 0032196244     PISSN: 00264946     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (33)

1. Williams JCP, Barrat-Boyes BG. Lowe JB. Supravalvular aortic stenosis. Circulation 1961;24:1311-8.
2. Fanconi G, Girardet P, Schlesinger B, Butler N, Black J. Chronische Hypercalcaemie kombiniert mit Osteosklerose, Hyperazotaemie, Minderwuchs und kongenitalen Missbildungen. Helv Paediatr Acta 1952;7: 314-49.
3. Black AI, Bonham-Carter RE. Association between aortic stenosis and facies of severe infantile hypercalcaemia. Lancet 1963;ii:745.
4. Beuren AJ. Supravalvular aortic stenosis: a complex syndrome with and without mental retardation. Birth Defects, OAS 1972;8(5):45-56.
5. Beuren AJ. Apitz J, Harmjanz D. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation 1962;26:1235-40.
6. Smith DW. Recognizable patterns of human malformations. 2nd edition. Philadelphia: WB Saunders Company, 1976:54-5.
7. Carrozzo R, Ballabio A. Le sindromi da geni contigui. Prospective in pediatria. 1996;104:299-307.
8. Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 1993;5:11-6.
9. Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF, Keating MT. The elastin gene is disrupted by a translocation associated with Supravalvular aortic stenosis. Cell 1993;73:159-68.
10. Lowery MC, Morris CA, Ewart A, Brothman LJ, Zhu XL, Leonard CO et al. Strong correlation of elastin deletions, detected by FOSH, with Williams Syndrome: evaluation of 235 patients. Am J Hum Genet 1995; 57: 49-53.
11. Borg I. Delhanty JDA, Baraitser M. Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams Syndrome. J Med Genet 1995;32:692-6.
12. Kotzot D. Bemasconi F, Brecevic L, Robinson WP, Kiss P, Kosztolanyi G et al. Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus. Eur J Pediatr 1995;154:477-82.
13. Monaco AP. Human genetics: dissecting Williams syndrome. Curr Microbiol 1996;6.1396-8.
14. Frangiskakis JM, Ewart AK, Morris CA, Mervis CB, Bertrand J, Robinson BF et al. LIM-kinase 1 Hemizygosity implicated in impaired visuospatial constructive cognition. Cell 1996;86:59-09.
15. Peoples R, Perez-Jurado L, Wang YK, Kaplan P, Francke U. The gene for Replication Factor C Subunit 2 (RFC2) is within the 7q11.23 Williams Syndrome deletion. Am J Hum Genet 1996; 58:1370-3.
16. Osbome LR, Martindale D, Scherer SW, Shi XM, Huizenga J, Heng HHQ et al. Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams Syndrome patients. Genomics 1996;36: 328-30.
17. Wang YK, Samos CH, Peoples R, Perez-Jurado LA, Nusse R, Francke U. A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams Syndrome deletion at 7q11.23. Hum Mol Genet 1997,6:465-72.
18. Franceschini P, Guala A, Vardeu MP. Signorile F, Franceschini D, Mastroiacovo P et al. La sindrome di Williams: uno studio collaborativo italiano. Minerva Pediatr 1996;48:421-8.
19. Langille BL. Arterial remodeling: relation to hemodynamics. Can J Physiol Pharmacol 1996;74:834-841.
20. Giorlandino C, Vizzone A. Flussimetria ostetrica matema e fetale. Roma: CIC Edizioni Internazionali, 1993.
21. Wessel A, Pankau R. Berdau W. Aortic stiffness with the William-Beuren Syndrome. Pediatr Cardiol 1997;18:244.
22. O'Connor WN, Davis JB Jr, Geissler R, Cottril CM, Noonan JA, Todd EP. Supravalvular aortic stenosis. Arch Pathol Lab Med 1985;109:179-85.
23. Miyamura H, Watanabe H, Tatebe S, Eguchi S Spontaneous regression of peripheral pulmonary artery stenosis in Williams syndrome. Jpn Circ J 1996;60:311-4.
24. Jaffee OC. Hemodynamics and Cardiogenesis: the effects of the physiologic factors on cardiac development. Birth Defects, OAS, 1978;14(7):393-404.
25. Morris CA, Demsey SA, Leonard CO. Dilts C, Blackburn BL. Natural history of Williams syndrome: physical characteristics. J Pediatr 1988;113:318-26.
26. Jones KL, Smith DW. The Williams elfin facies syndrome. J Pediatr 1975;86:718-23.
27. Bird LM, Billman GF, Lacro RV, Spicer RL, Jariwala LK, Hoyme HE et al. Sudden death in Williams syndrome: report of ten cases. J Pediatr 1996;129:926-31.
28. Hsu-Wong S, Katchman SD, Ledo I, Wu M, Khillan J, Bashir MM et al. Tissue-specific and developmentally regulated expression of human elastin promoter activity in transgenic mice. J Biol Chem 1994;269: 18072-5.
29. Perrin S, Foster JA. Developmental regulation of elastin gene expression. Crit Rev Eukaryot Gene Expr 1997,7:1-10.
30. Rosenbloom J, Abrams WR, Indik Z, Yeh H, OmsteinGoldsteln N, Bashir MM. Structure of the elastic gene. In: The molecular biology and pathology of the elastic tissues. Wiley. Chichester (Ciba Foundation Symposium 192), 1995:59-80.
31. Friedman WF, Roberts WC. Vitamin D and the Supravalvular Aortic Stenosis Syndrome. The transplacental effects of Vitamin D on the aorta of the rabbit. Circulation 1966;34:77-86.
32. Bank AJ, Wang H, Holte JE, Mullen K, Shammas R, Kubo SH. Contribution of collagen, elastin, and smooth muscle to in vivo human brachial artery wall stress and elastic modulus. Circulation 1996;94:3263-70.
33. Hou JW, Wang JK, Wang TR. Microdeletion on chromosomal region 7q11 .23 in Williams syndrome. J Formosan Med Assoc 1997;90:137-40.