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The branchial arches are embryologic structures that develop into anatomic structures in the adult human. The term “branchial” derives from the Latin “branchia,” meaning gills, and is used to describe the development of many species of fish and amphibia. Therefore, the term “branchial arches” is alternatively named “pharyngeal arches” to more accurately describe human anatomy. The branchial arches give rise to the lower face, neck, and part of the upper thorax, while the frontonasal prominence gives rise to the forehead and nose. The adult structures formed by the branchial arches are the result of contributions from the primary germ layers, including endoderm, mesoderm, ectoderm, and neural crest cell derivatives. Failure of the branchial arches to correctly develop results in anatomical, developmental defects manifesting in many ways that will be detailed further below.[1]

The pathophysiology of branchial arch malformations spans a broad and complex range. Anomalies are detectable in isolation from other issues, or part of a more extensive developmental syndrome, including DiGeorge syndrome, auriculocondylar syndrome, Pierre Robin syndrome, Treacher Collins syndrome, or velocardiofacial syndrome, among many others. This article will focus on the most common isolated defects associated with branchial arch derivatives in the following section rather than the complex syndromes of craniofacial developmental.[2]