Loeys Deitz syndrome

Evidence-based neurology checklist on loeys deitz syndrome: Genetics This is caused by mutations in the TGFBR2 gene The transmission is autosomal dominant Vascular abnormalities Clinical features Acronym

Genetics

  • This is caused by mutations in the TGFBR2 gene
  • The transmission is autosomal dominant

Vascular abnormalities

Clinical features

Acronym

References

  1. 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.
  2. Samanta D. Headaches in Loyes-Dietz syndrome. J Child Neurol 2018; 19:883073818815039 (Epub ahead of print).

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