Publication:

Williams syndrome in a 7-year-old girl with characteristic facies, congenital cardiac involvement and behavioral phenotype: a case report

Williams syndrome is a rare multisystem genetic disorder caused by a microdeletion at chromosome 7q11.23 involving the ELN gene. It is characterized by distinctive facial features, cardiovascular abnormalities, developmental delay, endocrine disturbances, and a characteristic hypersocial behavioral profile. We report a 7-year-old girl with genetically confirmed Williams syndrome who presented with urinary tract infection. She had been diagnosed at 1 year of age after recognition of dysmorphic features and congenital cardiac disease, followed by confirmation by chromosome analysis and fluorescence in situ hybridization. Clinical findings included depressed nasal bridge, posteriorly rotated ears, long philtrum, retrognathia, mild pectus deformity, deep-set nails, and mild muscular ventricular septal defect. At follow-up, she had typical “elfin” facies and an unusually friendly personality. This case highlights the importance of early recognition and long-term multidisciplinary follow-up, including cardiovascular, developmental, behavioral, metabolic, renal, hearing, and visual surveillance.