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Updated: Apr 17, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Uncommon variants of the scimitar syndrome in two siblings
Ilaria Bo1, Piers E F Daubeney2, Michael L Rigby1
1Division of Paediatric Cardiology, Royal Brompton Hospital, London, United Kingdom.
Abstract:
The Scimitar syndrome is a complex association of cardiovascular and bronchopulmonary abnormalities, with the main feature a partial or total anomalous right pulmonary venous drainage to the inferior vena cava. A number of cases that lack of all the features of the typical syndrome have been described as Scimitar variant, but the incidence is rare. Familial occurrence is exceptional and limited to few cases in literature. We report two sibling diagnosed with an uncommon variant of the Scimitar syndrome.
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