Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma

Levin et al. (1973) described monozygotic female twins with a syndrome of hypoplasia or interruption of the transverse aortic arch, facial weakness involving particularly the depressor anguli oris, and bilateral retinal coloboma. Marden and Venters (1966) described macular coloboma and coarctation of the aorta in a single patient who also had the linear nevus sebaceous syndrome. Whether this is a genuine syndrome and, if so, whether it is mendelian is not clear.