Limb Defects, Distal Transverse, With Mental Retardation And Spasticity

Jancar (1967) reported the case of a 19-year-old man with ectrodactyly, mental retardation, and spastic paraplegia. Zlotogora (1987) described the combination in a 3-year-old child. Zlotogora and Glick (1993) reported a third case in an offspring of healthy Moslem Arabs who were first cousins. They raised the possibility of autosomal recessive inheritance because the parents of 2 of the patients were first cousins and the sister of patient 2 may also have been affected. However, the second and third families originated from communities in which consanguineous marriages are the rule and not the exception.