Variables clínicas de la microsomía hemifacial. Presentación de un caso

Abstract

Congenital malformations are structural, morphologic, or functional anomalies that develop during intrauterine life. This report aims to describe the clinical variables of a syndromic disease in a patient, to get a correct diagnosis and improve the understanding of this condition. These malformations can affect various human body organs and systems, including the nervous, cardiovascular, respiratory, and musculoskeletal systems, among others. Hemifacial microsomia (HFM) is a syndromic condition characterized by a broad spectrum of varying severity craniofacial malformations. It is considered the second most prevalent malformation after cleft lip and palate. It is described as a genetic alteration at the first and second branchial arch levels during embryogenesis. It presents clinical features with variable expressivity at the level of the facial skeleton, mandible, maxilla, zygoma, temporal bone, ocular orbit, ear, facial tissues, and vertebral structures. It is reported the case of an 18-year-old syndromic male patient who attended an orofacial malformation specialized health center because he presented clinical manifestations compatible with a diagnosis of hemifacial microsomia. A complete genetic and medical record was performed, from which clinical data, complementary, cytogenetic, and molecular studies were taken. A clinical diagnosis was performed with the obtained data.