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A case of 11 q-deletion syndrome associated with familial exudative vitreoretinopathy Hiroe Uto 1 , Mariko Shigeto 1 , Hiroe Tahara 1 , Hitomi Uchida 1 , Yoshitaka Ohnishi 1 , Mieko Nishimura 2 1Dept of Ophthalmol, Fac of Med, Kyushu Univ 2Kohshinkai Med Corporation pp.1193-1196
Published Date 1993/5/15
DOI https://doi.org/10.11477/mf.1410908692
  • Abstract
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A 6-month female baby presented with exotropiaand positive angle gamma in the left eye. She wasborn at 39 weeks of gestation weighing 2,360 g.Shereceived no oxygen therapy. She manifestedpsychomotor retardation, hypertelorism, epicanth-us, antimongoloid slant, saddle nose, carp mouth,auricular deformity and planovalgus arches.Chromosomal analysis showed 46, XX, del (11) (q23.3). Both fundus showed avascular area in theperiphery and abnormal pattern of retinal vesselsconsisting in : multiple branching, increase in num-ber, linearization, and anastomosis in the periphery.The left eye showed macular heterotropia andvitreoretinal adhesion in the temporal periphery.The findings simulated those of familial exudativevitreoretinopathy. Family members showed normalfundus. The abnormalities in retinal vessels appear-ed to be related with deletion of the long arm of 11chromosome.


Copyright © 1993, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1882-1308 印刷版ISSN 0370-5579 医学書院

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