Loeys-Dietz Syndrome Type II shows a number of phenotypic features which can help to identify affected patients.


Genetic defect: mutations in transforming growth factor (TGF)-beta receptor 2 (TGFBR2)


Inheritance: autosomal dominant or de novo mutation


Clinical findings:

(1) bifid uvula

(2) arterial tortuosity with aneurysms at the aortic root or of other arteries, aortic dilatation and/or aortic dissection

(3) splenic rupture

(4) bowel rupture

(5) inguinal hernia

(6) velvety and/or translucent skin

(7) easy bruisability

(8) skin hyperextensibility

(9) atrophic scars

(10) joint laxity


Additional findings in women:

(1) vascular rupture during pregnancy

(2) uterine rupture

(3) uterine hemorrhage


Differential diagnosis:

(1) vascular form of Ehlers-Danlos syndrome (with abnormalities of Type III collagen)


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