Cortical Blindness, Retardation, And Postaxial Polydactyly

Hernandez et al. (1985) found this combination in 3 children of first-cousin parents. The facies were considered typical with prominent forehead, short nose, long philtrum, and microretrognathia. Two of the 3 died at 20 and 5 months, respectively, of acute gastroenteritis. Growth and psychomotor development were severely retarded.