Japanese family with Greig cephalopolysyndactyly syndrome, including bilateral seven toes, and esotropia, over three generations

Abstract

We report a Japanese family with Greig cephalopolysyndactyly syndrome (GCPS), in which the grandmother, mother, and daughter were affected. They each had the same characteristics including bilateral seven toes, hypertelorism, and esotropia. Bilateral seven toes and esotropia had followed over three generations and have not previously been reported in this syndrome. The present case with bilateral seven toes and esotropia may be a new type.

Greig Cephalopolysyndactyly Syndrome

“…7,8 Familial occurrences were also described. 9,10 Presumptive and firm diagnoses are based on the description of Johnston et al 2 A presumptive diagnosis can be established on the basis of the findings of preaxial polydactyly, syndactyly of toes 1 through 3 or fingers 3 and 4, hypertelorism, and macrocephaly. A firm diagnosis can be established if a first-degree relative had the diagnosis before and had the described anomalies of the hands, feet, and craniofacial features.…”