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Congenital glaucoma and brain stem atrophy as features of Aicardi–Goutières syndrome
Author(s) -
Crow Yanick J.,
Massey R.F.,
Innes J.R.,
Pairaudeau P.W.,
Rowland Hill C.A.,
Woods C.G.,
Ali M.,
Livingston J.H.,
Lebon P.,
Nischall K.,
McEntagart M.,
Hindocha N.,
Winter R.M.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30250
Subject(s) - atrophy , glaucoma , medicine , neuroscience , pathology , ophthalmology , psychology
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.