Williams Syndrome in a 4 years old infant

Authors

Abstract

We present the clinical case of a 4-year-old infant with no family history of genetic diseases. He was assisted in several consultations and was indicated for complementary studies for gastroesophageal reflux, congenital heart disease, strabismus, delayed psychomotor development, hyperactivity, inattention, language delay, and facial dysmorphisms. Due to these characteristics, he was referred to a Clinical Genetics specialist, where a comprehensive dysmorphological examination was performed. A genetic syndrome was suspected, which was confirmed by a molecular cytogenetic study using fluorescence hybridization. The results were positive, leading to a definitive diagnosis of Williams syndrome. This allowed for appropriate counseling for this family.

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Author Biography

Elayne Esther Santana Hernández, Sociedad científica de medicina familiar.Sociedad científica de Genética Humana.Centro provincial de Genética Holguín

Máster en Atención Integral al Niño.

Especialista de Primer y Segundo Grado en Medicina General Integral.

Especialista de Primer y Segundo Grado en Genética Clínica.

Investigador Agregado.

Profesor Auxiliar

References

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Published

2025-10-25

How to Cite

1.
Santana Hernández EE, Labrada García M, Rubio Rojas IE. Williams Syndrome in a 4 years old infant. MEDISAN [Internet]. 2025 Oct. 25 [cited 2026 Mar. 12];29:e4937. Available from: https://medisan.sld.cu/index.php/san/article/view/4937

Issue

Vol. 29 (2025): publicación continua

Section

Case Reports

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