Journal of American Association for Pediatric Ophthalmology and Strabismus
Short ReportDuane syndrome in association with 48,XXYY karyotype
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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Duane's retraction syndrome associated with chromosome 4q27-31 segment deletion
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Interstitial deletion of 1q42.13-q43 with Duane retraction syndrome
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Localization of a gene for Duane retraction syndrome to chromosome 2q31
Am J Hum Genet
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Duane syndrome in the setting of chromosomal duplications
Am J Ophthalmol
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2019, International OphthalmologyPediatric neuro-ophthalmology, third edition
2016, Pediatric Neuro-Ophthalmology, Third EditionDiagnosis and treatment keys for Duane's retraction syndrome
2014, Ophthalmology in ChinaRetinal dysfunction and high myopia in association with 48,XXYY syndrome
2013, Documenta Ophthalmologica