Keywords
síndrome cri du chat
dismorfias
How to Cite
Abstract
Introduction: Cri-du-Chat Syndrome, also known as Lejeune syndrome, is a rare congenital disorder characterized by a cry resembling a cat's meow, characteristic facial dimorphism, microcephaly, and intellectual disability. It results from a chromosomal abnormality caused by a partial or total deletion of the short arm of chromosome 5. The prognosis is poor. Patients present with significant developmental delays and a shorter life expectancy.
Case presentation: A 10-year-old girl residing in the province of Pinar del Río was referred to a Clinical Genetics clinic by her health district due to dysmorphic signs and delayed psychomotor development. She was diagnosed with Cri-du-Chat Syndrome. The studies performed, as well as therapies to improve her quality of life, are described.
Conclusions: Knowledge of Cri-du-Chat Syndrome is important for early detection and the early promotion of an alternative communication system with the greatest possible success.
References
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Copyright (c) 2025 Jéssica Sánchez Rodríguez, Angel Oshumaré Chacón Alpí, Adrian Marín García, Yoleiny de la Caridad Lescalle Ortiz (Author)