Article
A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2015
Kaçar Bayram Ayşe, Per Hüseyin, Quon Jennifer, Canpolat Mehmet, Ülgen Ege, Doğan Hakkı, Gumus Hakan, Kumandas Sefer, Bayram Nurettin, Bilguvar Kaya, Çağlayan Ahmet Okay
Abstract excerpt
BACKGROUND: Congenital fibrosis of the extraocular muscles (CFEOM1) is classically a congenital, non-progressive, restrictive strabismus syndrome characterized by bilateral ptosis and ophthalmoplegia with an infraducted position of the globes. This autosomal dominant syndrome is caused by mutations in the KIF21A gene. METHODS AND RESULTS: In this report we describe a 5-year-old boy, and his mother, both of whom...
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