Presentation
History withheld.
Patient Data
Age: 51 years
Gender: Male
From the case:
Loeys-Dietz syndrome
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Profound tortuosity of the neck vessels.
Case Discussion
Loeys-Dietz syndrome (LDS) is an autosomal dominant genetic syndrome which has many features similar to Marfan syndrome. This patient has a confirmed history of LDS.
The syndrome is thought to have classical triad of:
- arterial tortuosity and aneurysms
- hypertelorism
- bifid uvula or cleft palate