Duane syndrome in association with 48,XXYY karyotype

Abstract

Duane syndrome is an ocular motility disorder consisting of deficient horizontal eye movements, eyelid retraction, palpebral fissure narrowing, and abnormal vertical eye movements. It occurs in 1%-5% of patients with strabismus and has also been reported in several syndromes and chromosome abnormalities. Although most cases are sporadic, autosomal-dominant inheritance is seen in up to 10% of cases. Recently, Duane syndrome has been reported to occur in the setting of chromosomal duplication. The 48,XXYY syndrome is a rare syndrome involving duplication of the sex chromosomes. Ocular abnormalities are not typical of this condition. We report the first case of Duane syndrome presenting in an 8-month-old boy with XXYY syndrome. This case lends further support to the association of chromosomal duplication and Duane syndrome.