Examinando por Autor "Camacho Seminario, Kerly Gabriela"

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    Síndrome de Coffin-Lowry: informe de caso en una niña ecuatoriana
    (Universidad Católica de Cuenca., 2023) Camacho Seminario, Kerly Gabriela; Ramírez Portilla, Cristian Carlos; 0751011099
    Introduction: Coffin-Lowry Syndrome is a rare disease with a worldwide prevalence of 1 in every 50 to 100 thousand live births. It follows an X-linked inheritance pattern and is associated with an alteration in the RSK2 gene. Case Presentation: A 7-year-old female patient has presented craniofacial abnormalities since birth, along with psychomotor problems. Over time, there was no improvement in her growth for her age, and neurological delays were noted. At the age of 7, a cytogenetic examination was conducted, confirming the diagnosis of Coffin-Lowry Syndrome. Her treatment has been multidisciplinary, aiming to enhance the patient's quality of life, improve functionality, and minimize complications. Currently, the patient is stable and receiving comprehensive treatment without complications.