Cortical blindness, growth and psychomotor retardation and postaxial polydactyly: a probably distinct autosomal recessive syndrome.
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.
D001766:Blindness / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005532:Foot Deformities, Congenital; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics*; D006228:Hand Deformities, Congenital; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital; D008297:Male; D010375:Pedigree; D011596:Psychomotor Disorders / Q000235:genetics*; D013577:Syndrome