Multiple Exostoses With Spastic Tetraparesis

In 4 generations of a family in Germany, Hamann et al. (1992) observed the combination of multiple exostoses of typical nature (133700) in association with spastic tetraparesis. There were no exostoses in the spine or cranium to account for the tetraspastic disorder. The pedigree pattern was consistent with autosomal dominant inheritance. In the second generation, all of 5 sibs were affected. Hamann et al. (1992) concluded that this represented a new syndrome, although the possibility of a contiguous gene syndrome was considered.