GIANT-CELL CHONDRODYSPLASIA IN A MALE INFANT WITH CLINICAL AND RADIOLOGICAL FINDINGS RESEMBLING THE PIEPKORN TYPE OF LETHAL OSTEOCHONDRODYSPLASIA

We report on a patient whose clinical, radiologic, and histopathologic findings are compatible with the Piepkorn type of lethal short-limb o steochondrodysplasia, but who also showed multinucleated giant chondro cytes in cartilage. Multinucleated giant cells are an unusual finding in osteochondrodysplasias, having been reported in atelosteogenesis ty pe I and boomerang dysplasia. This uncommon histopathologic finding an d the clinical and radiographic findings strongly support the diagnosi s of boomerang dysplasia in the present patient. Our patient supports the previously suggested existence of an entity including atelosteogen esis and boomerang dysplasia. If this is so, the current patient and t hat described by Piepkorn et al. [1971: Teratology 16:345-350] could r epresent the most severe clinical expression of that condition. (C) 19 97 Wiley-Liss, Inc.