Bilateral hereditary micro-epiphyseal dysplasia (BHMED) is a distinct skeletal dysplasia with specific clinical and radiological findings. It was first published in 1959. We have re-examined the original family for further delineation of the phenotype.

doi.org/10.1007/s00264-002-0341-9, hdl.handle.net/1765/54671
International Orthopaedics
Department of Clinical Genetics

Mostert, A., Jansen, B. R. H., Dijkstra, P., Wesby-Van Swaay, E., van Horn, J. R., Heutink, P., & Lindhout, D. (2002). Bilateral hereditary micro-epiphyseal dysplasia: Further delineation of the phenotype with 40 years follow-up. International Orthopaedics, 26(3), 188–193. doi:10.1007/s00264-002-0341-9