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Cortical blindness, growth and psychomotor retardation and postaxial polydactyly: a probably distinct autosomal recessive syndrome.

作者信息

Hernández A, García-Esquivel L, Reynoso M C, Fragoso R, Enríquez-Guerra M A, Nazará Z, Anzar M B, Cantú J M

出版信息

Clin Genet. 1985 Sep;28(3):251-4. doi: 10.1111/j.1399-0004.1985.tb00395.x.

DOI:10.1111/j.1399-0004.1985.tb00395.x
PMID: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.

摘要

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