A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon. (November 2015)

• Record Type: Journal Article
• Authors: Kaçar Bayram, Ayşe; Per, Hüseyin; Quon, Jennifer; Canpolat, Mehmet; Ülgen, Ege; Doğan, Hakkı; Gumus, Hakan; Kumandas, Sefer; Bayram, Nurettin; Bilguvar, Kaya; Çağlayan, Ahmet Okay
• Is Part Of: European journal of paediatric neurology. Volume 19:Number 6(2015:Nov.)
• Page Start: 743
• Page End: 746
• Publication Date: 2015-11
• Subjects: Pediatric neurology -- Periodicals; Nervous System Diseases -- Periodicals; Child -- Periodicals; Infant -- Periodicals; Neurologie pédiatrique -- Périodiques; Pediatric neurology; Electronic journals; Periodicals; Electronic journals; 618.928
• DOI: 10.1016/j.ejpn.2015.06.003
• Languages: English
• ISSNs: 1090-3798

Abstract

<abstract xml:lang="en" abstract-type="author" id="abs0010"> <title id="sectitle0010">Abstract</title> <sec> <title id="sectitle0015">Background</title> <p id="abspara0010">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 <italic>KIF21A</italic> gene.</p> </sec> <sec> <title id="sectitle0020">Methods and results</title> <p id="abspara0015">In this report we describe a 5-year-old boy, and his mother, both of whom have a mutation in the <italic>KIF21A</italic> gene, who possesses typical features of CFEOM1 syndrome. Besides displaying typical features of CFEOM1, he demonstrated Marcus Gunn jaw-winking phenomenon. The patient additionally had a positive family history of such features.</p> </sec> <sec> <title id="sectitle0025">Conclusion</title> <p id="abspara0020">This is first report of the coexistence of CFEOM and Marcus Gunn jaw-winking phenomenon in a patient with a KIF21A mutation from Turkey. We explain the phenotypic findings associated with mutations in <italic>KIF21A</italic> including CFEOM1A and Marcus Gunn jaw-winking phenomenon.</p> </sec> </abstract>