UNILATERAL TERMINAL APHALANGIA IN FATHER AND DAUGHTER - EXOGENOUS OR GENETIC CAUSE

Published cases of familial unilateral terminal transverse defects are scarce. We report on a morphologically similar defect of the hand in a father and his daughter. The hand anomaly is similar in both, but on the opposite side. Thalidomide was taken in the sensitive period of t he pregnancy by the father's mother. To our knowledge this is the seco nd description of unilateral terminal aphalangia in successive generat ions. In order to evaluate the possible genetic basis we analyze epide miological studies in respect to the recurrence risk of cases with iso lated limb reduction defects. We compare reports of familial occurrenc e concerning the degree of relationship as well as the pattern of malf ormation. The latter seems to be an important aspect from an evolution ary and a developmental viewpoint. For our observation an autosomal do minant transmission is the most likely although multifactorial determi nation cannot be excluded. (C) 1998 Wiley-Liss,Inc.