Response to “Letter: Fibular Aplasia, Tibial Campomelia and Oligosyndactyly” by Evans and Elliott^†

To the Editor:

We thank Dr. Evans and Dr. Elliott for their very valuable comments. We agree that this child presenting fibular aplasia, tibial campomelia, and oligosyndactyly indeed has findings in common with the syndrome described as “fibular aplasia with ectrodactyly” or “brachydactyly-ectrodactyly with fibular aplasia or hypoplasia” syndrome (OMIM 113310). In the latter syndrome brachydactyly and ectrodactyly seem to be major findings. Since our patient did not present neither brachydactyly nor a classical split hand/foot or ectrodactyly we did not consider this diagnosis. It is however correct that our patient presented a wide gap between the first and second toe. There is however no shortening/hypoplasia of metacarpals, metatarsals, or contralateral tibia/fibula. A slight male sex predilection, as well as a more common unilateral involvement with the right side more commonly affected than the left, has also been observed in reported patients with fibular agenesis [Lewin and Opitz, 1986]. In our manuscript we only reviewed those cases presenting with fibular aplasia, tibial campomelia, and oligosyndactyly, excluding all cases who presented in addition other findings such as femoral hypoplasia and brachydactyly. We however agree that it is indeed possible that these cases presenting with FATCO syndrome (OMIM 246570) [Hecht and Scott, 1981; Courtens et al., 2005; and a recently born male from Czech Republic (Dr. Dortova, personal communication)] and the rare patients reported with brachydactyly-ectrodactyly with fibular aplasia/hypoplasia syndrome (OMIM 113310) [Deragna et al., 1966; Genuardi et al., 1990; Evans et al., 2002] could eventually be lumped together as variable expressions of the same spectrum. Future cases and molecular analyses will elucidate this possibility. We completely agree that genetic counseling in such cases remains difficult.