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  • Title: Cortical blindness, growth and psychomotor retardation and postaxial polydactyly: a probably distinct autosomal recessive syndrome.
    Author: Hernández A, García-Esquivel L, Reynoso MC, Fragoso R, Enríquez-Guerra MA, Nazará Z, Anzar MB, Cantú JM.
    Journal: Clin Genet; 1985 Sep; 28(3):251-4. PubMed ID: 4064363.
    Abstract:
    A 14-month-old female infant with a syndrome mainly consisting of cortical blindness, psychomotor retardation and postaxial polydactyly (type B in hands and type A in feet) was studied. Two deceased sibs were similarly affected. Differential diagnosis and the review of medical literature permit the individualization of a distinct syndrome with a probable autosomal recessive pattern of inheritance.
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