The syndrome of mesomelic dwarsfism involving hypoplasia of the ulna, fibula, and mandible does not include renal abnormalities. This case also lacks the thickness and bowing of the radii and tibiae seen in that syndrome and lacks the ocular involvement associated with most syndromes involving renal dysplasia. Some of the anomalies in this case (renal malformation, mesomelic brachymelia, and talipes) are also part of the Schinzel-Giedion syndrome, but we did not find the cardiac, facial, rib, or hand anomalies in that disorder. Also, the Schinzel-Giedion syndrome does not include the absent ulnae and fibulae seen here. This case represents an instance of radioulnar hypoplasia with other defects, but does not match the case described by Gollop and Coates . That case included bifid humerus and hand malformations and lacked renal involvement.
ASJC Scopus subject areas