Ulna Metaphyseal Dysplasia Syndrome

In a kindred originating in Sardinia, Rosenberg and Lohr (1986) found many cases of a seemingly 'new' autosomal dominant syndrome. They studied a father and 2 sons in detail. Common to all affected members of the family was thickening of the wrists proximal to the styloid process of the ulna. Dyschondrosteosis (127300) was first considered in the differential diagnosis. The proband was the older son who presented at the age of 14.5 years with severe pain in the wrists occurring mainly during and after judo training. Other affected members had no pain. Radiologically recognizable changes, in the form of noncalcified cartilaginous islands protruding like cones into the metaphysis, began with the onset of puberty. Thickening ('roofing') of the dorsum sellae was observed in all 3 patients. (Strand and Green (1974) observed this change with spondylometaphyseal dysplasia.) The significance of a 'slightly elevated' serum calcium level was not clear. The metatarsals, metacarpals and distal fibula were dysplastic to variable degrees; the distal ulna showed the most striking changes. The 2 sons had coxa valga. Skeletal development was delayed. An abnormality of the vertebral column was also suggested.

Lee et al. (2003) described an 8-year-old boy with a distinctive form of metaphyseal chondrodysplasia closely resembling Rosenberg type metaphyseal chondrodysplasia. He presented with moderate to disproportionate short stature and bony swelling of his wrists, knees, and ankles. There were severe metaphyseal abnormalities with a honeycomb appearance affecting the distal tibiae and fibulae, proximal tibiae, distal femurs, distal ulnae and radii, and both hands. His thoracolumbar spine was normal. Radiologic examination of the mother's forearms revealed widening of the distal radii and short ulnae with hypoplastic distal ends.