Examinando por Autor "Fajardo Capón, José Andrés"
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- ÍtemEmbargoSíndrome de apert: reporte de caso(Universidad Católica de Cuenca., 2023) Fajardo Capón, José Andrés; Ramírez Portilla, Cristian Carlos; 0106874191Introduction: Apert Syndrome is a rare pathology, it has a worldwide prevalence of 1 in every 65 to 160 thousand live births, at the same time it presents an inheritance pattern linked to the X chromosome, with an alteration in the gene that encodes the receptor type. II of fibroblasts. Presentation of the case: Male patient with a history of 5 years of age at consultation for the first time due to delay in learning and height, a height of 95cm, and a weight of 14.2 kg, an acrocephalic-looking skull, hypoplasia is evident. middle face, prominent forehead, antimongoloid palpebral fissure, hypertelorism, exophthalmos, low-set ears, wide nasal bridge, thin upper and lower lips, cleft palate, prominent jaw, short and wide neck, extremities, syndactyly in hands and feet, mild restriction of mobility in the elbows, spina bifida with spinal column deformity in addition to postural disorders, concomitantly with a decrease in strength and muscle mass of the lower extremities. Currently the patient is stable, receiving multidisciplinary treatment, without complications.