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Cortical blindness, growth and psychomotor retardation and postaxial polydactyly: a probably distinct autosomal
Clinical Genetics
|September 1, 1985
Insights
This study details a rare genetic syndrome in an infant, characterized by vision loss, developmental delays, and extra fingers and toes. The findings suggest a distinct inherited condition with a probable autosomal recessive inheritance pattern.
Area of Science:
- Genetics
- Pediatrics
- Neurology
Background:
- A rare syndrome presents with significant developmental and neurological challenges.
- Affected individuals exhibit cortical blindness, psychomotor retardation, and postaxial polydactyly.
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.