... individuals with a 3p21.31 interstitial deletion associated with aortic root dilatation. Case Presentation: We report a 2-year-old girl with 3p21.31p14.3 deletion, aortic root dilatation, global developmental delay, hypotonia, and distinctive facial features. The size of this interstitial deletion is 6.8 Mb...

... present a case of two siblings with the B3GAT3 variant. The 14-year-old boy exhibited short stature, severe kyphoscoliosis, splenomegaly, and aortic root dilatation, along with several physical abnormalities including bifid uvula, blue sclera, limited elbow extension, and pectus carinatum. His 6-year-old...