Aim: To prove that bilateral hereditary micro-epiphyseal dysplasia (BHMED), first described by Elsbach in 1959 [1], is a distinct disorder radiologically as well as clinically, compared with multiple epiphyseal dysplasia (MED). Material and Methods: We used the data of the revised pedigree with 84 family members, performed a medical history, physical examination and made a radiological evaluation for defining a clinical and radiological phenotype of BHMED family members. We used blood samples for genetic analysis. Results: Although there is a clear clinical picture of the dysplasia, the radiological signs are more reliable for making the diagnosis. Especially the typical deformity of the hip and knee joint are diagnostic for BHMED. By linkage analysis we excluded linkage with the three known MED-loci (EDM1, EDM2 and EDM3). Conclusion: BHMED is indeed an entity that is distinct from common multiple epiphyseal dysplasia (MED), clinically, as well as radiologically and genetically.

Micro-epiphyseal dysplasia, Multiple epiphyseal dysplasia, Radiological
dx.doi.org/10.1055/s-2002-32693, hdl.handle.net/1765/65401
RoFo Fortschritte auf dem Gebiet der Rontgenstrahlen und der Bildgebenden Verfahren
Department of Clinical Genetics

Mostert, A.K, Dijkstra, P.F, van Horn, J.R, Jansen, B.R.H, Heutink, P, & Lindhout, D. (2002). Radiological features of bilateral hereditary micro-epiphyseal dysplasia - A distinct entity in the skeletal dysplasias. RoFo Fortschritte auf dem Gebiet der Rontgenstrahlen und der Bildgebenden Verfahren, 174(7), 887–892. doi:10.1055/s-2002-32693