Short Report
Duane syndrome in association with 48,XXYY karyotype

https://doi.org/10.1016/j.jaapos.2011.03.007Get rights and content

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.

Section snippets

Case Report

An 8-month-old boy presented to the Department of Ophthalmology at the North Shore–Long Island Jewish Health System for examination of his right eye, which, his family noted, had not moved normally since birth. He was born at 38 weeks' gestation and developed perinatal aspiration and a right pneumothorax. Medical history also was positive for hypotonia, absent reflexes, and developmental delay. The patient has 2 healthy older siblings with no medical problems. The parents are not consanguineous

Discussion

Duane syndrome may be a sporadic anomaly or it may be inherited. It may be isolated, part of a syndrome, or associated with a genetic abnormality.1 Approximately 10% of isolated Duane syndrome cases have a family history of Duane syndrome, usually in an autosomal-dominant inheritance pattern.2 Even in cases of Duane syndrome in which there is no other identified syndrome, there is an increased incidence of congenital malformations, including facial, ear, hearing, skeletal, vertebral, and

Literature Search

A comprehensive search of PubMed and MEDLINE was performed without date restriction for combinations of the following terms: XXYY, Duane syndrome, chromosome, strabismus, XXY, XYY, and Klinefelter.

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