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  • Print publication year: 2014
  • Online publication date: June 2014

Case 19 - Horner syndrome and headache

from Section 2 - Uncommon cases of stroke

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1. Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005; 37(3): 275–81.
2. Singh KK, Rommel K, Mishra A, et al. TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Hum Mutat 2006; 27(8): 770–7.
3. Brandt T, Orberk E, Weber R, et al. Pathogenesis of cervical artery dissections. Association with connective tissue abnormalities. Neurology 2001; 57: 24–30.
4. Völker W, Besselmann M, Dittrich R, et al. Generalized arteriopathy in patients with cervical artery dissection. Neurology 2005; 64: 1508–13.
5. Pannu H, Tran-Fadulu V, Milewicz DM. Genetic basis of thoracic aortic aneurysms and aortic dissections. Am J Med Genet C Semin Med Genet 2005; 139C: 10–16.
6. Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006; 355(8): 788–98.

Current review

Debette S, Leys D. Cervical-artery dissections: predisposing factors, diagnosis, and outcome. Lancet Neurol 2009; 8(7): 668–78.

Suggested reading

Drera B, Tadini G, Barlati S, Colombi M. Identification of a novel TGFBR1 mutation in a Loeys–Dietz syndrome type II patient with vascular Ehlers–Danlos syndrome phenotype. Clin Genet 2008; 73: 290–3.
Pezzini A, Del Zotto E, Giossi A, et al. Transforming growth factor β signaling perturbation in the Loeys-Dietz syndrome. Curr Med Chem 2012; 19(3): 454–60.