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Williams syndrome: a case series.

Authors :
Kandasamy S
Saxena D
Kishore Y
Phadke SR
Source :
Indian pediatrics [Indian Pediatr] 2014 May; Vol. 51 (5), pp. 411-2.
Publication Year :
2014

Abstract

Pediatricians awareness about malformation syndromes can help in their timely diagnosis. Williams syndrome is a microdeletion syndrome associated with characteristic facial features and behavioral phenotype. Diagnosis can be confirmed by fluorescence-in-situ hybridization or multiplex ligation probe amplification. Correct diagnosis can help in diagnosing hypercalcemia and cardiac defects, and providing genetic counseling to the family.

Details

Language :
English
ISSN :
0974-7559
Volume :
51
Issue :
5
Database :
MEDLINE
Journal :
Indian pediatrics
Publication Type :
Academic Journal
Accession number :
24953591
Full Text :
https://doi.org/10.1007/s13312-014-0416-x