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Lacrimal drainage system anomalies in Williams-Beuren syndrome

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ABSTRACT Williams-Beuren syndrome is a rare multi-system disorder affecting 1:10000 to 1:20000 live-births. The cause is de novo contiguous gene deletion on the long arm of chromosome 7 (7q11.23). It… Click to show full abstract

ABSTRACT Williams-Beuren syndrome is a rare multi-system disorder affecting 1:10000 to 1:20000 live-births. The cause is de novo contiguous gene deletion on the long arm of chromosome 7 (7q11.23). It typically manifests with dysmorphic facies and predominantly involves the connective tissues, cardiovascular and nervous systems. The published literature reveals that lacrimal drainage anomalies are exceptionally rare and not much is known of those reported. The present case describes multiple lacrimal drainage anomalies in a child with Williams-Beuren syndrome.

Keywords: drainage system; beuren syndrome; williams beuren; lacrimal drainage

Journal Title: Orbit
Year Published: 2020

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