Figure 1.

Clinical and Radiological Features of Patient II-2 in Family 1

Specific facial dysmorphy with downslanting palpebral fissures, ptosis, beaked nose, and small mouth (photograph at 15 years of age reproduced with patient's permission). Radiograph at 18 months of age of right upper limb showing severe bowing and shortening of the forearm, metacarpal, carpometacarpal fusions, and brachymetacarpy of the 3rd to 5th ray.