MESOMELIC SHORTENING OF THE UPPER EXTREMITIES WITH SPUR FORMATION ANDCUTANEOUS DIMPLING

We report a boy with mesomelic dysplasia of the forearms, skin dimples , mildly bowed tibiae, metatarsus adductus, congenital cataracts, sens orineural hearing loss, hypotonia, and mildly dysmorphic features. Pro minent radiologic findings include bony spurs of the diaphyses of the radii bilaterally with angulated, significantly shortened radii and ul nae and elbow dislocations. Changes in the lower extremities are confi ned to bowing of the tibiae and elongation of the thinned fibulae. To our knowledge this case represents a unique combination of findings no t previously reported, although some resemblance was found to a patien t reported by Kozlowski et al. in 1993.