Is there an autosomal recessive form of the split hand and split foot malformation?

摘要

A family is described in which four subjects in two sibships had typical split hand/foot malformation. The possibility of the existence of a rare autosomal recessive form of the malformation is discussed, as well as a two locus model. In the two locus model the dominant mutation leading to the split hand/foot malformation is controlled by a gene at another locus. A dominant mutation at the controlling locus leads to non-penetrance of the split hand/foot mutation.