MICROSOMÍA CRANEOFACIAL, UN RECUENTO ACTUALIZADO

Abstract

Craniofacial microsomia (CFM) is a complex congenital condition that affects approximately one in 5,000 live births. It was initially described by Carl Ferdinand Von Arlt in 1881, and over time, various synonymous terms have been used to refer to this condition. The pathophysiology of CFM revolves around the disruption of embryonic craniofacial development, primarily stemming from abnormalities in the first and second pharyngeal arches. Both genetic and non-genetic factors play a role in impacting the development of the ear and jaw. These factors encompass a range of elements, including: variants of transcription factors responsible for neural crest cell migration and patterning, chromatin modifiers, growth factors and their receptors, DNA pre-replication complexes, ribosome assembly, and the spliceosome. Although there is currently a better understanding of the pathophysiology of this entity, it is still necessary to continue with more specific research on the related etiological factors. The aim of this review is to compile the most pertinent genetic factors associated with craniofacial microsomia as reported in the last decade.