title: Williams syndrome: a case series.
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.
authors: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, UP, India. Correspondence to: Dr Shubha R Phadke, Professor and Head, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India. shubharaophadke@gmail.com.
authors: Subapriya
authors: S
authors: Kandasamy
authors: Deepti
authors: D
authors: Saxena
authors: Yougal
authors: Y
authors: Kishore
authors: Shubha R
authors: SR
authors: Phadke
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D019066:Facies; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D010641:Phenotype; D018980:Williams Syndrome / Q000235:genetics* / Q000473:pathology*