Oto-palato-digital Syndrome with Features of Type I and II in Brothers

We report on the oto-palato-digital syndrome (OPD) in two sons of a mother showing minimal signs of the condition. The index patient, a 10-year-old boy, presents typical symptoms of OPD type I together with bowing of the long bones and abnormalities of the thorax and spinal column. During the following pregnancy ultrasonographic studies of the male fetus in the 16th week of gestation revealed severe micrognathia, short and wide thumbs, and big toes, and bowed tibiae. After termination of the pregnancy further features were observed which fulfilled the diagnostic criteria of both OPD I and II. A possible explanation of these findings is that OPD type I and II and the features in the described cases are part of a continuous clinical spectrum of the same underlying mutation, or that several different alleles are involved in the OPD type I, type II, and mixed phenotypes.