1.
Indian Pediatr
;
2014 May; 51(5): 411-412
Artigo
em Inglês
| IMSEAR
| ID: sea-170626
RESUMO
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.