Literature DB >> 7604843

Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome.

D Chitayat1, A Toi, R Babul, A Levin, J Michaud, A Summers, J Rutka, S Blaser, L E Becker.   

Abstract

We report on the prenatal ultrasonographic diagnosis of Walker-Warburg syndrome based on cerebral and ocular findings. The ultrasound study done at 37 weeks gestation documented hydrocephalus and retinal nonattachment consistent with this syndrome. The ability to detect retinal nonattachment prenatally may have implications for the prenatal diagnosis of other conditions which have early retinal nonattachment as one of their findings. However, it is uncertain how early in pregnancy this defect can be detected.

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Year:  1995        PMID: 7604843     DOI: 10.1002/ajmg.1320560403

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  4 in total

1.  Very Early In-Utero Diagnosis of Walker-Warburg Phenotype: The Cutting Edge of Technology.

Authors:  R Achiron; E Katorza; H Reznik-Wolf; E Pras; D Kidron; M Berkenstadtt
Journal:  Ultrasound Int Open       Date:  2016-05

2.  Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease.

Authors:  Jingjing Liu; Jing Zhu; Jiyun Yang; Xiang Zhang; Qi Zhang; Peiquan Zhao
Journal:  Mol Genet Genomic Med       Date:  2018-11-25       Impact factor: 2.183

3.  Bilateral total retinal detachment at birth: a case report of Walker-Warburg syndrome.

Authors:  Navid Hakim; Cristina Soare; Jamil Hakim
Journal:  Int Med Case Rep J       Date:  2018-01-09

Review 4.  Insight into the molecular genetics of myopia.

Authors:  Jiali Li; Qingjiong Zhang
Journal:  Mol Vis       Date:  2017-12-31       Impact factor: 2.367

  4 in total

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