Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome

Yanick Crow; Yanick J. Crow; R. F. Massey; J. R. Innes; P. W. Pairaudeau; C. A Rowland Hill; C. G. Woods; M. Ali; J. H. Livingston; P. Lebon; K. Nischall; M. McEntagart; N. Hindocha; R. M. Winter

doi:10.1002/ajmg.a.30250

Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome

Yanick Crow, Yanick J. Crow, R. F. Massey, J. R. Innes, P. W. Pairaudeau, C. A Rowland Hill, C. G. Woods, M. Ali, J. H. Livingston, P. Lebon, K. Nischall, M. McEntagart, N. Hindocha, R. M. Winter

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Abstract

We report on three children from two families with Aicardi-Goutières syndrome. All three had congenital glaucoma. Additionally, neuroimaging demonstrated significant brain stem atrophy in the affected sib-pair. These features have not been previously described in Aicardi-Goutières syndrome and expand the phenotypic spectrum. © 2004 Wiley-Liss, Inc.

Original language	English
Pages (from-to)	303-307
Number of pages	4
Journal	American Journal of Medical Genetics. Part A
Volume	129
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.a.30250
Publication status	Published - 1 Sept 2004

Keywords

Aicardi-Goutières syndrome
Brain stem atrophy
Glaucoma
Intracranial calcification

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Crow, Y., Crow, Y. J., Massey, R. F., Innes, J. R., Pairaudeau, P. W., Hill, C. A. R., Woods, C. G., Ali, M., Livingston, J. H., Lebon, P., Nischall, K., McEntagart, M., Hindocha, N., & Winter, R. M. (2004). Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome. American Journal of Medical Genetics. Part A, 129(3), 303-307. https://doi.org/10.1002/ajmg.a.30250

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title = "Congenital glaucoma and brain stem atrophy as features of Aicardi-Gouti{\`e}res syndrome",

abstract = "We report on three children from two families with Aicardi-Gouti{\`e}res syndrome. All three had congenital glaucoma. Additionally, neuroimaging demonstrated significant brain stem atrophy in the affected sib-pair. These features have not been previously described in Aicardi-Gouti{\`e}res syndrome and expand the phenotypic spectrum. {\textcopyright} 2004 Wiley-Liss, Inc.",

keywords = "Aicardi-Gouti{\`e}res syndrome, Brain stem atrophy, Glaucoma, Intracranial calcification",

author = "Yanick Crow and Crow, {Yanick J.} and Massey, {R. F.} and Innes, {J. R.} and Pairaudeau, {P. W.} and Hill, {C. A Rowland} and Woods, {C. G.} and M. Ali and Livingston, {J. H.} and P. Lebon and K. Nischall and M. McEntagart and N. Hindocha and Winter, {R. M.}",

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Crow, Y, Crow, YJ, Massey, RF, Innes, JR, Pairaudeau, PW, Hill, CAR, Woods, CG, Ali, M, Livingston, JH, Lebon, P, Nischall, K, McEntagart, M, Hindocha, N & Winter, RM 2004, 'Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome', American Journal of Medical Genetics. Part A, vol. 129, no. 3, pp. 303-307. https://doi.org/10.1002/ajmg.a.30250

TY - JOUR

T1 - Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome

AU - Crow, Yanick

AU - Crow, Yanick J.

AU - Massey, R. F.

AU - Innes, J. R.

AU - Pairaudeau, P. W.

AU - Hill, C. A Rowland

AU - Woods, C. G.

AU - Ali, M.

AU - Livingston, J. H.

AU - Lebon, P.

AU - Nischall, K.

AU - McEntagart, M.

AU - Hindocha, N.

AU - Winter, R. M.

PY - 2004/9/1

Y1 - 2004/9/1

N2 - We report on three children from two families with Aicardi-Goutières syndrome. All three had congenital glaucoma. Additionally, neuroimaging demonstrated significant brain stem atrophy in the affected sib-pair. These features have not been previously described in Aicardi-Goutières syndrome and expand the phenotypic spectrum. © 2004 Wiley-Liss, Inc.

AB - We report on three children from two families with Aicardi-Goutières syndrome. All three had congenital glaucoma. Additionally, neuroimaging demonstrated significant brain stem atrophy in the affected sib-pair. These features have not been previously described in Aicardi-Goutières syndrome and expand the phenotypic spectrum. © 2004 Wiley-Liss, Inc.

KW - Aicardi-Goutières syndrome

KW - Brain stem atrophy

KW - Glaucoma

KW - Intracranial calcification

U2 - 10.1002/ajmg.a.30250

DO - 10.1002/ajmg.a.30250

M3 - Article

SN - 1552-4825

VL - 129

SP - 303

EP - 307

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

IS - 3

ER -

Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome

Abstract

Keywords

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