Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles

The brachydactylies are a group of conditions in which various subtypes hav e been defined based upon the specific pattern of digital bones involved. T ype Al brachydactyly is principally characterised by maximal involvement of the middle phalanges. We report an extended family with a mild brachydacty ly Al which was, except for some short stature, not associated with any of the additional clinical findings reported in several published families. Wh ile all the hand bones tended to be small, the principal features of the af fected members were shortened middle and distal phalanges, proximal Ist pha langes, and 5th metacarpals. The feet were similarly involved and tended to have a broad, slightly adducted forefoot. The two affected children showed multiple coned epiphyses. This paper provides a detailed description of th e family including the radiographic signs and metacarpophalangeal profiles, which proved to be useful in distinguishing the mildly affected persons.