Heart-Hand Syndrome, Spanish Type

Ruiz de la Fuente and Prieto (1980) described a new form of the heart-hand syndrome in 3 generations of a Spanish family with several instances of male-to-male transmission. The hand abnormality was brachydactyly, resembling brachydactyly type C (113100). The cardiac defect was intraventricular conduction defect in 3 and sick sinus syndrome in 1. The brachydactyly affected mainly the middle phalanges; the index and fifth fingers were more severely affected than the others. A wedge-shaped extra ossicle on the proximal phalanx of both index fingers reduced them in length and caused them to deviate toward the ulnar side of the hand. The feet were affected, but to a lesser degree.