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Cri du Chat Syndrome: a case study

Author

Listed:
  • Jéssica Sánchez Rodríguez

    (Policlínico Universitario Luis Augusto Turcios Lima. Universidad de Ciencias Médicas de Pinar del Río. Pinar del Río. Cuba)

  • Angel Oshumaré Chacón Alpí

    (Policlínico Universitario Pedro Borrás Astorga. Universidad de Ciencias Médicas de Pinar del Río. Pinar del Río. Cuba)

  • Adrian Marín García

    (Policlínico Universitario Pedro Borrás Astorga. Universidad de Ciencias Médicas de Pinar del Río. Pinar del Río. Cuba)

  • Yoleiny de la Caridad Lescalle Ortiz

    (Policlínico Universitario Pedro Borrás Astorga. Universidad de Ciencias Médicas de Pinar del Río. Pinar del Río. Cuba)

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.

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Handle: RePEc:cwh:ijneur:v:59:y:2025:id:235
DOI: 10.62486/ijn2025235
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