Genotype-Phenotype Correlation Study in 529 Patients with Multiple Hereditary Exostoses: Identification of

“Protective” and “Risk” Factors

by Elena Pedrini, Ivy Jennes, Morena Tremosini, Annamaria Milanesi, Marina Mordenti, Alessandro Parra, Federica Sgariglia, Monia Zuntini, Laura Campanacci,

Nicola Fabbri, Elettra Pignotti, Wim Wuyts, and Luca Sangiorgi

J Bone Joint Surg AmVolume 93(24):2294-2302

December 21, 2011

©2011 by The Journal of Bone and Joint Surgery, Inc.

The association between clinical phenotype and the disease-linked gene (Fig. 1-A), sex (Fig. 1-B), sporadic origin or family history (Fig. 1-C), and number of skeletal sites with exostoses (Fig. 1-D).

Elena Pedrini et al. J Bone Joint Surg Am 2011;93:2294-2302

©2011 by The Journal of Bone and Joint Surgery, Inc.

The association between clinical phenotype and percentile height in patients with multiple hereditary exostoses (Fig. 2-A); the height of patients with multiple hereditary exostoses

compared with different age classes (preadolescents, adolescents, and adult...

Elena Pedrini et al. J Bone Joint Surg Am 2011;93:2294-2302

©2011 by The Journal of Bone and Joint Surgery, Inc.