A FURTHER CASE OF VERTICAL TRANSMISSION OF PROXIMAL FEMORAL FOCAL DEFICIENCY

We report on a newborn boy with congenital asymmetrically hypoplastic fibulae, lateral oligodactyly, and mild left ectrodactyly. The patient 's grandfather had a short femoral shaft with a slightly smaller collo diaphyseal angle on the left as compared to the right side, probably a proximal focal femoral deficiency (PFFD). The upper limbs were not af fected in either patient. PFFD in the grandfather and hypoplastic fibu lae with lateral ray defects in the grandson raise the possibility of genetic transmission, specifically autosomal-dominant inheritance with variable penetrance and expressivity. This case gives further support to the fibular developmental field concept postulated by Lewin und Op itz [1986: Am J Med Genet (Suppl) 2:215-238]. (C) 1997 Wiley-Liss, Inc .