A boy with severe manifestations of type A1 brachydactyly.Clin Dysmorphol. 1998 Jan; 7(1):21-7.CD
We describe a male with type A1 brachydactyly, a descendant of Drinkwaters second family. In addition to absence of the middle phalanges of his hands and feet he has generalised skeletal abnormalities, nystagmus and a squint. We suggest that his clinical findings represent the more severe manifestations of this autosomal dominant gene.