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Symptoms of Loeys-Dietz

Cardiovascular

Enlargement of the Aorta, causing an aneurysm (bulge in the blood vessel). It may also cause sudden tearing of the aortic wall without warning, causing life-threatening complications

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Head, Eyes and Neck

  • Widely-spaced eyes (hypertelorism)

  • White of the eye looks blue or gray

  • Wide or split uvula

  • Cleft palate

  • Instability or malformation of the spine in the neck

Hypertelorism.png
Skin

  • Easy bruising

  • Wide scars

  • Soft skin texture

  • Translucent skin 

Bones

  • Club foot

  • Brittle bones (Osteoporosis) 

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Club Foot

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