Browse Items (8 total)

Rubinstein-Taybi syndrome (RTS) and Cornelia de Lange syndrome (CdLS) are genetically heterogeneous multiple anomalies syndromes, each having a distinctive facial gestalt. Two genes (CREBBP and EP300) are known to cause RTS, and five (NIPBL, SMC1A,…

We describe the prenatal diagnosis of partial anomalous pulmonary venous connection (PAPVC) at 27 weeks' gestation in a patient with Fryns with the right upper pulmonary vein to the right superior vena cava and right atrial junction. The remaining…

Isolation of the subclavian artery is an uncommon anomaly of the aortic arch system in which one subclavian artery loses its connection with the aorta and arises from the homolateral pulmonary artery by way of a ductus arteriosus. An isolated…
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