Key result
A neonate was diagnosed at 20 days of life with Williams-Beuren Syndrome presenting with an atypical complete atrioventricular canal defect and few typical phenotypic features.
Case Report (n=1)
This case highlights that complete atrioventricular canal defect can be an atypical cardiac presentation of Williams-Beuren Syndrome.
Answers are grounded in this paper and cite their sources.
Supports WBS testing in neonates with atypical AV canal defect; leaves open expanded cardiac phenotypes.
Williams-Beuren Syndrome (WBS) is a well-described microdeletion syndrome characterized by specific dysmorphic facial features, peripheral pulmonic stenosis, supravalvular aortic stenosis, hypercalcemia, feeding difficulties, gastroesophageal reflux, short stature, and specific intellectual disabilities (such as visual spatial problems). WBS is caused by 7q11.23 deletions that contain multiple genes known to contribute to the above phenotype. We report a neonate with a complete atrioventricular canal (CAVC) defect, an atypical cardiac lesion for WBS, and few typical phenotypic features of WBS, diagnosed at 20 days of life.
No takes yet. Share an insight, caveat, or question.
Ahrens‐Nicklas et al. (2015) conducted a case report in Williams-Beuren Syndrome with complete atrioventricular canal defect (n=1). A neonate was diagnosed at 20 days of life with Williams-Beuren Syndrome presenting with an atypical complete atrioventricular canal defect and few typical phenotypic features.
Synapse has enriched 10 related papers. Consider them for comparative context: