Surprisingly in this family, only 2 individuals showed additional phenotypic changes, other than short stature, seen in individuals with SHOX deficiency: Case 3 has short 4th and 5th metacarpals and a Madelung deformity, and Case 2 has shortening of the ulna. The gene discussed is SHOX; the disease is hyperinsulinemic hypoglycemia, familial, 4.