The first arch syndrome

Abstract

Eleven cases illustrating the clinical features of eight different types of congenital anomaly or syndrome affecting the head and neck are described along with the relevant literature on each. From a consideration of the clinical features, the anatomy described in several cases, the embryology of the first visceral arch and its environs, especially the development of the blood vessels, and, from an examination of the hereditary features, it is claimed that all the anomalies mentioned comprise one hereditary syndrome (the 'first arch syndrome') caused by a dominant gene or group of dominant genes with variable specificity and expressivity and with only a moderate degree of penetrance.