- Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual. Sobetzko, D., Eich, G., Kalff-Suske, M., Grzeschik, K.H., Superti-Furga, A. Am. J. Med. Genet. (2000)