Langer-Giedion syndrome and deletion of the long arm of chromosome 8

Summary Reexamination of a previously reported patient with 8q interstitial deletion reveals the development of a tricho-rhinophalangeal syndrome type II (Langer-Giedion syndrome) with multiple exostoses at the age of 4 years. Together with the two previous reports on 8q deletion and TRP II syndrome the present observation strongly supports the causal relationship between TRP II syndrome and 8q deletion.