Brachydactyly, Type A2, With Microcephaly

Graham (1989) described a brother and sister born to unaffected second-cousin parents who had hypoplastic thumbs and halluces with bulbous tips, short index fingers with absent middle phalanges and clinodactyly of the second toes (type A2 brachydactyly). In addition, they had microcephaly. The brother, at 13 years of age, manifested a seizure disorder with generalized spike-wave discharges by EEG; he also had diabetes mellitus which was controlled by diet.