What is Loeys-Dietz syndrome (LDS)?

Updated: Apr 22, 2019
  • Author: David S Liebeskind, MD, FAAN, FAHA, FANA; Chief Editor: Andrew K Chang, MD, MS  more...
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Answer

Loeys-Dietz syndrome (LDS) consists of craniofacial abnormalities, craniosynostosis, marked arterial tortuosity, and aneurysms and is inherited in an autosomal dominant manner. Although intracranial aneurysms occur in LDS of all types, saccular intracranial aneurysms are a prominent feature of LDS type IC, which is caused by mutations in the SMAD3 gene. [17]


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