ASYMMETRIC AND SYMMETRICAL LONG-BONE BOWING IN 2 SIBS - AN APPARENTLYNEW BONE DYSPLASIA

We describe 2 sibs, one with congenital asymmetric long bone bowing an d one with congenital symmetric long bone bowing. Other bony abnormali ties in these sibs include beaten metal appearance of the skull, dolic homacrocephaly, ocular hypertelorism, and anterior beaking and bone-wi thin-bone appearance of vertebrae. A differential diagnosis including campomelic dysplasia, kyphomelic dysplasia, hypophosphatasia, Grant sy ndrome, and osteogenesis imperfecta, and a discussion of potential mec hanisms of long bone bowing are presented. The condition that these si bs have shares some characteristics of the above bone disorders, but a ppears to be a separate entity which to our knowledge has not been des cribed previously. (C) 1993 Wiley-Liss, Inc.