Multiple epiphyseal dysplasia and spondyloepiphyseal dysplasia have been previously described in association with visual impairment (i.e. myopia, retinal detachment, glaucoma, cataracts), hearing loss, skin changes and the Pierre Robin anomaly. Transmission of these disorders has been either by dominant or recessive inheritance. We have found no previous discussion of multiple epiphyseal dysplasia in association with anomalous external auricles and in this report we describe 2 sisters with the condition. Preliminary results of clinical, structural and biochemical studies suggest that this may be a rare, recessively inherited disorder affecting the collagen or ground substance proteoglycan of epiphyseal and auricular cartilage.
|Number of pages||10|
|Journal||Birth Defects: Original Article Series|
|State||Published - 1975|