Loeys Deitz syndrome
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Loeys Deitz syndrome. This is caused by mutations in the TGFBR2 gene. The transmission is autosomal dominant. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the TGFBR2 gene
- The transmission is autosomal dominant
Vascular abnormalities
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Clinical features
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Acronym
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References
- Kiliç E, Alanay Y, Utine E, Ozgen-Mocan B, Robinson PN, Boduroğlu K. Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene. Turk J Pediatr 2012; 54:198-202.
- Samanta D. Headaches in Loyes-Dietz syndrome. J Child Neurol 2018; 19:883073818815039 (Epub ahead of print).
