Thumb Deformity

Bilbrey (1966) described thumb deformity of the type seen with the heart-hand syndrome. The thumb was either absent or hypoplastic. The published x-rays do not demonstrate whether the metacarpal of the thumb when present had an epiphyseal ossification center at each end. No cardiac anomaly was detected in any of the 13 affected persons in 3 generations. The pedigree contained no instance of male-to-male transmission.