Bowing Of Long Bones, Asymmetric And Symmetric

Moore et al. (1993) presented the cases of a sister and brother with asymmetric and symmetric long bone bowing, respectively, 'beaten metal' appearance of the skull, dolichomacrocephaly, and ocular hypertelorism. Congenital bowing of the long bones occurs in a number of bone dysplasias, including campomelic dysplasia (114290), kyphomelic dysplasia (211350), hypophosphatasia (241500), Grant syndrome (138930), and osteogenesis imperfecta congenita (166210); however, Moore et al. (1993) were unable to identify a syndrome that fitted the condition found in these sibs.