CHRISTIANS SPONDYLO-DIGITAL-SYNDROME - 2ND FAMILIAL CASE

We studied a mother and daughter with skeletal dysplasia which was cha racterized clinically by proximal and distal flexion contractures in t he phalanges, and by brachydactyly, clinodactyly and ulnar and radial subdislocations of the fingers. Radiologically, the 2nd metacarpal in the daughter was seen to be longer than the other metacarpals, with bo ne carpal fusion, and flexion contractures of the fingers in both hand s. Thoraco-lumbar xyphorotoscoliosis and malformed vertebrae with dyss egmentation of L2-L3, T12 and L1 with cuneiform shape, asymmetry of th e pelvic bones and exostotic lesions in the proximal third of the tibi a and the distal third of the femur were also noted. The clinical and radiological characteristics were compatible with the syndrome describ ed by Christian et al. in 1975 and called the second metatarsal syndro me. The purpose of this paper was to present a second corroborative fa milial case and to propose another name: Christian's spondylo-digital syndrome.