ASSOCIATION OF KYPHOMELIC DYSPLASIA WITH SEVERE COMBINED IMMUNODEFICIENCY

Kyphomelic dysplasia is a distinct, rare, skeletal dysplasia with shor t angulated femora, bowing of long bones, short ribs, narrow thorax, a nd metaphyseal abnormalities. While immune deficiency occurs in other short stature/short-limb skeletal dysplasias and cartilage-hair hypopl asia, it has not been described with kyphomelic dysplasia. We report o n an infant with this disorder who had profound humoral and cellular i mmunologic abnormalities consistent with severe combined immune defici ency (SCID). The infant died at age 2 months of overwhelming cytomegal ovirus pneumonia. Kyphomelic dysplasia, as with other short stature/sh ort-limb skeletal dysplasias, can be associated with immune deficiency and immune function should be investigated when this disorder is iden tified. (C) 1995 Wiley-Liss, Inc.