Loeys-Dietz syndrome

Case contributed by Dr Rachael O'Rourke


History withheld.

Patient Data

Age: 51 years
Gender: Male

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:

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Case information

rID: 34423
Published: 19th Feb 2015
Last edited: 14th Aug 2019
System: Vascular, Chest
Inclusion in quiz mode: Included

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