Untitled - Sociedad de Psiquiatría y Neurología de la Infancia y ...

Casos Clínicos
miento debe ser multidisciplinario, con
apoyo de distintas especialidades médicas
y de rehabilitación. El tratamiento médico
debe indicarse según la sintomatología en
cada caso particular.
REFERENCIAS BIBLIOGRÁFICAS
1. Williams JC, Barratt-Boyes BG, Lowe
JB. Supravalvular aortic stenosis. Circulation.
1961;24:1311-8
2. Beuren AJ, Apitz J, Harmjanz D. Supravalvular
aortic stenosis in association
with mental retardation and a
certain facial appearance. Circulation.
1962;26:1235-40
3. Ewart AK, Morris CA, Atkinson DL,
Jin W, Sternes K, Spallone P, Stock AD.
Hemizygosity at the elastin locus in a
development disorder, Williams syndrome.
Nat Genet 1993; 5: 11-6
4. Morris CA. Williams Syndrome. 1999
Apr 9 [Updated 2006 Apr 21]. In:
Pagon RA, Bird TD, Dolan CR, et al.,
editors. GeneReviews(tm) [Internet].
Seattle (WA): University of Washington,
Seattle; 1993. Available from:
http://www.ncbi.nlm.nih.gov/books/
NBK1249/
5. Walter E, Mazaika P, Reiss A. Insights
into brain development from neurogenetic
Syndromes: Evidence from Fragile
X syndrome, Williams syndrome,
Turner syndrome and Velocardiofacial
syndrome. Neuroscience 2009;
164(1):257-271
6. Eisenberg D, Jabbi M, Berman K.
Bridging the gene-behavior divide
through neuroimaging deletion syndromes:
Velocardiofacial (22q11.2
deletion) and Williams (7q11.23 deletion)
syndromes. Neuroimage 2010;
53(3): 857-869
7. Ounap K, Laidre P, Bartsch O, Rein R,
Lipping-Sitska M. Familial Williams-
Beuren syndrome. Am J Med Genet
1998; 80: 491-3.
8. Pérez-Jurado L, Peoples R, Kaplan P,
Hamel B. Molecular Definition of the
Chromosome 7 Deletion in Williams
Syndrome and Parent-of-Origin Effects
on Growth. Am. J. Hum. Genet
1996; 59:781-792.
9. Sadler LS, Pober BR, Grandinetti A,
Scheiber D, Fekete G, Sharma AN, Urban
Z. Differences by sex in cardiovascular
disease in Williams syndrome. J
Pediatr. 2001;139:849-53.
10. Meyer-Lindenberg A, Weinberger DR.
Intermediate phenotypes and genetic
mechanisms of psychiatric disorders.
Nat Rev Neurosci. 2006 Oct;7(10):818-
27.
11. Carrasco X, Castillo S, Aravena T,
Rothhammer P, Aboitiz F. Williams
syndrome: pediatric, neurologic, and
cognitive development. Pediatr Neurol
2005; Mar 32(3):166-72.
12. Bellugi U, Adolphs R, Cassady C, Chiles
M. Towards the neural basis for hypersociability
in a genetic syndrome.
Neuroreport 1999; 10: 1653-1657.
13. Greer MK, Brown FR, Pai GS, Choudry
SH, Klein AJ. Cognitive, adaptive,
and behavioral characteristics of Williams
syndrome. Am J Med Genet.
1997;74:521-5.
14. Kippenhan JS, Olsen RK, Mervis CB,
Morris CA, Kohn P, Meyer-Lindenberg
A, Berman KF. Genetic contributions
to human gyrification: sulcal
morphometry in Williams syndrome.
J Neurosci. 2005 Aug 24;25(34):7840-
6.
15. Aravena T, Castillo S, Carrasco X,
Mena I, López J, Rojas JP, Rosemberg
C, Schröter C, Aboitiz F. [Williams
syndrome: clinical, cytogenetical,
neurophysiological and neuroanatomic
study]. Rev Med Chil. 2002 Jun;
130(6):631-7.
176 Rev. Chil. Psiquiatr. Neurol. Infanc. Adolesc. / Volumen 23, Nº 3, Diciembre 2012 Todos los derechos reservados