Branchial Cleft Anomalies

Clinical Features

The abnormality may be in the form of cysts, sinuses, or fistulas, the last term being reserved for those instances in which there is communication between the skin and the pharynx. These are considered to be anomalies of the second branchial cleft. Ear pits were also present in at least 1 family. Wheeler et al. (1958) found branchial cysts and sinuses in 4 members of 3 generations of a family. Cysts, sinuses, and skin tags containing cartilage occurred in a line extending from a point anterior to the ear to the anterior border of the sternomastoid muscle at the level of the angle of the mandible and thence along the anterior border of this muscle to a point near its attachment to the sternum. One must exclude the branchiootorenal (BOR) syndrome (113650) and the branchiootic (BO) syndrome (602588).