BACKGROUND: Congenital @entity82 of the extraocular muscles (CFEOM) is a rare condition that has been traditionally regarded as a primary eye @entity121 . Recent studies, however, suggest that CFEOM may be the result of a @entity16 with secondary myopathic changes. PURPOSE: To describe a previously unrecognized association between congenital @entity82 of the extraocular muscles and structural @entity75 . DESIGN: Small case series. METHODS: Detailed clinical examinations and neuroradiologic studies were performed on the three affected family members. In addition, genetic analysis of the family was performed. RESULTS: The three affected family members, mother and two @entity1 , have the ocular features of 'classic' congenital @entity82 of the extraocular muscles. All showed dilation of the left lateral ventricle secondary to @entity509 of the body and tail of the ipsilateral caudate nucleus. There was fusion of an enlarged caudate nucleus head with the underlying putamen. Both @entity1 showed widespread bilateral @entity6795 . Genetic analysis of the family was inconclusive but consistent with linkage to the @entity18356 locus on chromosome 12. Chromosomal analysis of the affected individuals did not show evidence of a deletion of chromosome 12 and haplotype analysis was not suggestive of a microdeletion. CONCLUSIONS: Cerebral cortical and basal ganglia maldevelopment can be found in individuals with CFEOM. This suggests that neuroimaging should be considered in the initial diagnostic evaluation of these @entity1 , particularly if there is developmental delay.

Congenital @entity82 of the extraocular muscles associated with XXXX and maldevelopment of the basal ganglia.

@entity1 :: ('9606', 'Species') :: ['children', 'patients'] @entity82 :: ('MESH:D005355', 'Disease') :: ['fibrosis'] @entity75 :: ('MESH:D001927', 'Disease') :: ['abnormalities of the brain'] @entity16 :: ('MESH:D009422', 'Disease') :: ['primary neuropathy'] @entity509 :: ('MESH:C538429', 'Disease') :: ['hypoplasia'] @entity6795 :: ('MESH:D054220', 'Disease') :: ['cortical dysplasia'] @entity18356 :: ('55605', 'Gene') :: ['CFEOM1'] @entity121 :: ('MESH:D009135', 'Disease') :: ['muscle disease']
@entity6795 :: (MESH:D054220,Disease) :: ['cortical dysplasia']
