Matches in SemOpenAlex for { <https://semopenalex.org/work/W2002603178> ?p ?o ?g. }
Showing items 1 to 75 of
75
with 100 items per page.
- W2002603178 endingPage "0" @default.
- W2002603178 startingPage "0" @default.
- W2002603178 abstract "Purpose The majority of Duane syndrome cases are sporadic in origin with only 2-5% patients showing a familial pattern. Only a few large families have been reported. The purpose of this study is to report the clinical presentations, abnormalities of ocular motility, and strabismus in 3 generations of a family with Duanes syndrome. Methods 22 members of a family of three generations (age range 6 years to 70 years) were examined. Detailed ophthalmologic assessment included assessment of vision, binocularity, and video recordings of ocular motility. Results Unilateral Duane syndrome type 1 was noted in the left eye of a lady in the first generation of the pedigree. In the second generation, of the 4 subjects examined, two females had esotropia with diplopia, one male had minimal bilateral abduction deficit with endpoint nystagmus and one sibling was normal. 12 subjects from the third generation were examined. Two of them had unilateral Duane’s syndrome. Two children had minimal abduction deficit with endpoint nystagmus. Three subjects had esotropia and diplopia requiring surgery. The mother of one of the affected subject had normal eye movements. Conclusion This large family with Duane syndrome appears to have a dominant form of inheritance with variable penetrance and expressivity. The skipped generation indicates unaffected carrier state. The variable phenotypic expression seen in this family suggests that classical Duane syndrome could be one end of a spectrum of eye movement disorders comprising esotropia, abduction deficits and globe retraction; the other end being normal ocular motility." @default.
- W2002603178 created "2016-06-24" @default.
- W2002603178 creator A5003376705 @default.
- W2002603178 creator A5018559718 @default.
- W2002603178 creator A5054203955 @default.
- W2002603178 creator A5079784474 @default.
- W2002603178 date "2008-09-04" @default.
- W2002603178 modified "2023-10-16" @default.
- W2002603178 title "Clinical variability in a three-generation family with Duane’s syndrome" @default.
- W2002603178 doi "https://doi.org/10.1111/j.1755-3768.2008.427.x" @default.
- W2002603178 hasPublicationYear "2008" @default.
- W2002603178 type Work @default.
- W2002603178 sameAs 2002603178 @default.
- W2002603178 citedByCount "0" @default.
- W2002603178 crossrefType "journal-article" @default.
- W2002603178 hasAuthorship W2002603178A5003376705 @default.
- W2002603178 hasAuthorship W2002603178A5018559718 @default.
- W2002603178 hasAuthorship W2002603178A5054203955 @default.
- W2002603178 hasAuthorship W2002603178A5079784474 @default.
- W2002603178 hasConcept C104317684 @default.
- W2002603178 hasConcept C118487528 @default.
- W2002603178 hasConcept C127716648 @default.
- W2002603178 hasConcept C138496976 @default.
- W2002603178 hasConcept C153050134 @default.
- W2002603178 hasConcept C15744967 @default.
- W2002603178 hasConcept C187212893 @default.
- W2002603178 hasConcept C200544954 @default.
- W2002603178 hasConcept C2776194465 @default.
- W2002603178 hasConcept C2776864138 @default.
- W2002603178 hasConcept C2779532201 @default.
- W2002603178 hasConcept C2779736392 @default.
- W2002603178 hasConcept C2780581723 @default.
- W2002603178 hasConcept C2908845642 @default.
- W2002603178 hasConcept C54355233 @default.
- W2002603178 hasConcept C548259974 @default.
- W2002603178 hasConcept C71924100 @default.
- W2002603178 hasConcept C86803240 @default.
- W2002603178 hasConceptScore W2002603178C104317684 @default.
- W2002603178 hasConceptScore W2002603178C118487528 @default.
- W2002603178 hasConceptScore W2002603178C127716648 @default.
- W2002603178 hasConceptScore W2002603178C138496976 @default.
- W2002603178 hasConceptScore W2002603178C153050134 @default.
- W2002603178 hasConceptScore W2002603178C15744967 @default.
- W2002603178 hasConceptScore W2002603178C187212893 @default.
- W2002603178 hasConceptScore W2002603178C200544954 @default.
- W2002603178 hasConceptScore W2002603178C2776194465 @default.
- W2002603178 hasConceptScore W2002603178C2776864138 @default.
- W2002603178 hasConceptScore W2002603178C2779532201 @default.
- W2002603178 hasConceptScore W2002603178C2779736392 @default.
- W2002603178 hasConceptScore W2002603178C2780581723 @default.
- W2002603178 hasConceptScore W2002603178C2908845642 @default.
- W2002603178 hasConceptScore W2002603178C54355233 @default.
- W2002603178 hasConceptScore W2002603178C548259974 @default.
- W2002603178 hasConceptScore W2002603178C71924100 @default.
- W2002603178 hasConceptScore W2002603178C86803240 @default.
- W2002603178 hasLocation W20026031781 @default.
- W2002603178 hasOpenAccess W2002603178 @default.
- W2002603178 hasPrimaryLocation W20026031781 @default.
- W2002603178 hasRelatedWork W1978695414 @default.
- W2002603178 hasRelatedWork W1980383175 @default.
- W2002603178 hasRelatedWork W1987083962 @default.
- W2002603178 hasRelatedWork W2002603178 @default.
- W2002603178 hasRelatedWork W2032319452 @default.
- W2002603178 hasRelatedWork W2273815237 @default.
- W2002603178 hasRelatedWork W2322919601 @default.
- W2002603178 hasRelatedWork W2954708778 @default.
- W2002603178 hasRelatedWork W3199422360 @default.
- W2002603178 hasRelatedWork W71976224 @default.
- W2002603178 hasVolume "86" @default.
- W2002603178 isParatext "false" @default.
- W2002603178 isRetracted "false" @default.
- W2002603178 magId "2002603178" @default.
- W2002603178 workType "article" @default.