Multiple epiphyseal dysplasia is a rare cause of secondary OA and widespread pain.
A large family with multiple epiphyseal dysplasia linked to COL9A2 gene.
EDM1: A novel point mutation in cartilage oligomeric matrix protein gene in a Chinese family with multiple epiphyseal dysplasia
. Chin Med J 2013;126:1103-7.
Mustafa et al., "Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia, " Human Mutation, vol.
Chapman, "Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations, " Human Mutation, vol.
Although multiple epiphyseal dysplasia
was initially considered in the differential diagnosis, it was quickly ruled out because the involvement of the vertebral column was much more consistent with SED.
Hecht, "Pseudoachondroplasia and multiple epiphyseal dysplasia
: new etiologic developments," American Journal of Medical Genetics--Seminars in Medical Genetics, vol.
Differential considerations for this condition include multiple exostosis, enchondromatosis, multiple epiphyseal dysplasia
, Turner's syndrome without LWD, achondroplasia, chondroectodermal dysplasia, and hypoparathyroidism.