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Dural ectasia in Loeys-Dietz Syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation

Standard

Dural ectasia in Loeys-Dietz Syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation. / Sheikhzadeh, S; Brockstädt, Lars; Habermann, C R; Sondermann, C; Bannas, P; Mir, T S; Staebler, A; Seidel, H; Keyser, B; Arslan-Kirchner, M; Kutsche, K; Berger, Juergen; Blankenberg, S; Kodolitsch, Yskert.

in: CLIN GENET, Jahrgang 86, Nr. 6, 01.12.2014, S. 545-551.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Sheikhzadeh, S, Brockstädt, L, Habermann, CR, Sondermann, C, Bannas, P, Mir, TS, Staebler, A, Seidel, H, Keyser, B, Arslan-Kirchner, M, Kutsche, K, Berger, J, Blankenberg, S & Kodolitsch, Y 2014, 'Dural ectasia in Loeys-Dietz Syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation', CLIN GENET, Jg. 86, Nr. 6, S. 545-551. https://doi.org/10.1111/cge.12308

APA

Sheikhzadeh, S., Brockstädt, 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., & Kodolitsch, Y. (2014). Dural ectasia in Loeys-Dietz Syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation. CLIN GENET, 86(6), 545-551. https://doi.org/10.1111/cge.12308

Vancouver

Sheikhzadeh S, Brockstädt L, Habermann CR, Sondermann C, Bannas P, Mir TS et al. Dural ectasia in Loeys-Dietz Syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation. CLIN GENET. 2014 Dez 1;86(6):545-551. https://doi.org/10.1111/cge.12308

Bibtex

@article{4283a4bc523545868a3204b73316d119,
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.",
author = "S Sheikhzadeh and Lars Brockst{\"a}dt and Habermann, {C R} and C Sondermann and P Bannas and Mir, {T S} and A Staebler and H Seidel and B Keyser and M Arslan-Kirchner and K Kutsche and Juergen Berger and S Blankenberg and Yskert Kodolitsch",
note = "{\textcopyright} 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.",
year = "2014",
month = dec,
day = "1",
doi = "10.1111/cge.12308",
language = "English",
volume = "86",
pages = "545--551",
journal = "CLIN GENET",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
number = "6",

}

RIS

TY - JOUR

T1 - Dural ectasia in Loeys-Dietz Syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation

AU - Sheikhzadeh, S

AU - Brockstädt, Lars

AU - Habermann, C R

AU - Sondermann, C

AU - Bannas, P

AU - Mir, T S

AU - Staebler, A

AU - Seidel, H

AU - Keyser, B

AU - Arslan-Kirchner, M

AU - Kutsche, K

AU - Berger, Juergen

AU - Blankenberg, S

AU - Kodolitsch, Yskert

N1 - © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

PY - 2014/12/1

Y1 - 2014/12/1

N2 - 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.

AB - 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.

U2 - 10.1111/cge.12308

DO - 10.1111/cge.12308

M3 - SCORING: Journal article

C2 - 24344637

VL - 86

SP - 545

EP - 551

JO - CLIN GENET

JF - CLIN GENET

SN - 0009-9163

IS - 6

ER -