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A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon.
- Source :
-
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2015 Nov; Vol. 19 (6), pp. 743-6. Date of Electronic Publication: 2015 Jul 09. - Publication Year :
- 2015
-
Abstract
- 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.<br />Methods and Results: In this report we describe a 5-year-old boy, and his mother, both of whom have a mutation in the KIF21A 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.<br />Conclusion: 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 KIF21A including CFEOM1A and Marcus Gunn jaw-winking phenomenon.<br /> (Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)
- Subjects :
- Adult
Child, Preschool
DNA genetics
Exome genetics
Eye Diseases, Hereditary genetics
Eye Diseases, Hereditary physiopathology
Female
Fibrosis
Humans
Male
Mutation genetics
Ophthalmoplegia
Pedigree
Phenotype
Turkey
Blepharoptosis genetics
Blepharoptosis physiopathology
Heart Defects, Congenital genetics
Heart Defects, Congenital physiopathology
Jaw Abnormalities genetics
Jaw Abnormalities physiopathology
Kinesins genetics
Nervous System Diseases genetics
Nervous System Diseases physiopathology
Reflex, Abnormal genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1532-2130
- Volume :
- 19
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
- Publication Type :
- Academic Journal
- Accession number :
- 26190014
- Full Text :
- https://doi.org/10.1016/j.ejpn.2015.06.003