Familial Brachydactyly with Associated Bilateral Coxitis

Familial brachydactyly, as illustrated in a previous paper (Brailsford, 1945), may be exhibited in the members of a family unassociated with any other deformity. The same can be said of bilateral coxitis. In the family to be described and illustrated, these two conditions were associated with one another. The skeletal defects in brachydactyly may consist of one or more short metacarpals, metatarsals, or phalanges. The distribution may be:— (a) Regular, i.e., all the terminal phalangeal diaphyses, the middle phalanges or the metatarsals may be stunted in growth, the terminal or middle phalanges may be missing or fused, or (b) Irregular, with isolated defective phalanges, metacarpals or metatarsals. In the family previously illustrated it was shown that, though all members may inherit stunted development of some of these bones, they did not exhibit an exact copy of the parent, i.e., there was variation in the defects. This characteristic has been commented upon by other observers and is again shown in the present family. The variations exhibited in different members of a family may be striking and spectacular and should help us to realise that the variations in the structure of each one of us are infinite—sufficiently characteristic to permit of identification. We have learnt to appreciate the infinite variety in finger prints, but we do not realise, as fully as we ought, that this feature characterises all the structures of the body, i.e., there is no fixed normal.