case_images: PMC10761464_01
case_images: Main clinical findings of the proband. (A) Multiple ecchymoses (non-traumatic) in the anterior chest, right waist, and upper limbs. (B) Right finger with excessive dorsal flexion and the little finger pressed against the back of the hand. (C) Feet rotated inward. (D) Multiple aneurysms and aneurysmal dilation of the celiac trunk, proper hepatic artery, left hepatic artery, splenic artery, and both kidneys; arterial dissection of the celiac trunk and splenic artery is evident.
case_images: fgene-14-1246712-g001.jpg
case_images: PMC10761464_01_fgene-14-1246712-g001.jpg
case_images: F1
case_images: He exhibited aging skin of the extremities, subcutaneous venous exposure, and multiple ecchymoses (non-traumatic) of the chest, right waist, and upper extremities (Figure 1A). His right hand had excessive dorsal flexion and the little finger was pressed against the back of the hand (Figure 1B). His feet rotated inward (Figure 1C). Vascular and abdominal CT (Figure 1D) revealed multiple aneurysms and aneurysmal dilation of the celiac trunk, proper hepatic artery, left hepatic artery, splenic artery, and both kidneys, along with arterial dissection of the celiac trunk and splenic artery.
case_images: Pedigree chart of this case.
case_images: fgene-14-1246712-g002.jpg
case_images: PMC10761464_01_fgene-14-1246712-g002.jpg
case_images: F2
case_images: We collected basic information on the proband's family members over three generations (Figure 2).