[Variants of radial hemimelia with and without vitium cordis (Holt-Oram syndrome) in 2 families].

In two families radial hemimelia is inherited as a dominant trait. The first proposita suffered from bilateral radial aplasia, the 2nd propositus exhibited (pseudo)phocomelia. In this case the diagnosis was Holt-Oram-syndrome. The affected mothers showed unilateral hypoplasia of the thumb only. Cases like these ones are likely to be overlooked or misinterpreted. The recurrence risk is 50%. Similar observations are quoted. The cause of "variable expressivity" is unknown.