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

Nooreen; Nagamani Kulkarni; Shivakumar Indi; Sadashiva B. Ukkali; Nazeer A. Jeergal; Naushaad Malagi; A. N. Thobbi

doi:10.18203/2349-3291.ijcp20262431

Authors

Nooreen Department of Pediatrics, Al-Ameen Medical College and Hospital, Vijayapura, Karnataka, India
Nagamani Kulkarni Department of Pediatrics, Al-Ameen Medical College and Hospital, Vijayapura, Karnataka, India
Shivakumar Indi Department of Pediatrics, Al-Ameen Medical College and Hospital, Vijayapura, Karnataka, India
Sadashiva B. Ukkali Department of Pediatrics, Al-Ameen Medical College and Hospital, Vijayapura, Karnataka, India
Nazeer A. Jeergal Department of Pediatrics, Al-Ameen Medical College and Hospital, Vijayapura, Karnataka, India ka, India
Naushaad Malagi Department of Pediatrics, Al-Ameen Medical College and Hospital, Vijayapura, Karnataka, India
A. N. Thobbi Department of Pediatrics, Al-Ameen Medical College and Hospital, Vijayapura, Karnataka, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20262431

Keywords:

Williams’s syndrome, Williams-Beuren syndrome, Elfin facies, Congenital heart disease, Developmental delay

Abstract

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.

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