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- Document type:
- Journal Article; Article
- Author(s):
- Sheikhzadeh, S; Brockstaedt, L; Habermann, C R; Sondermann, C; Bannas, P; Mir, T S; Staebler, A; Seidel, H; Keyser, B; Arslan-Kirchner, M; Kutsche, K; Berger, J; Blankenberg, S; von Kodolitsch, Y
- Title:
- Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation.
- Abstract:
- The purpose of this study was to assess the frequency, severity, and clinical associations of dural ectasia (DE) in Loeys-Dietz syndrome (LDS). Database analysis of three German metropolitan regions identified 30 patients with LDS and TGFBR1 mutation in 6 and a TGFBR2 mutation in 24 individuals (17 men; mean age: 31 ± 19 years), as well as 60 age and sex-matched control patients with Marfan syndrome carrying a FBN1 mutation. DE was present in 22 patients with LDS (73%), and it related to skeletal score points (p = 0.008), non-skeletal score points (p < 0.001), and to the presence of >=7 systemic score points (p = 0.010). Similarly, the severity of DE was related to body height (p = 0.010) and non-skeletal score points (p = 0.004). Frequency (p = 0.131) and severity of DE (p = 0.567) was similar in LDS and Marfan syndrome. DE is a manifestation of LDS that occurs with similar frequency and severity as in Marfan syndrome. Severity of DE may serve as a marker of the overall connective tissue disease severity. LDS may be considered in patients with DE.
- Journal title abbreviation:
- Clin Genet
- Year:
- 2014
- Journal volume:
- 86
- Journal issue:
- 6
- Pages contribution:
- 545-51
- Language:
- eng
- Fulltext / DOI:
- doi:10.1111/cge.12308
- Pubmed ID:
- http://view.ncbi.nlm.nih.gov/pubmed/24344637
- Print-ISSN:
- 0009-9163
- TUM Institution:
- Institut für Humangenetik
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