Literature DB >> 3122570

Prenatal diagnosis of retinal detachment in Walker-Warburg syndrome.

S A Farrell1, A Toi, M L Leadman, R G Davidson, C Caco.   

Abstract

Lissencephaly, hydrocephalus, and eye abnormalities characterize patients with the Walker-Warburg syndrome, an uncommon autosomal recessive condition. Encephaloceles occur in about 50% of patients. We describe the prenatal diagnosis of this condition based on the ultrasonographic findings of retinal detachment, hydrocephalus, and an encephalocele in a fetus not known to be at risk.

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Year:  1987        PMID: 3122570     DOI: 10.1002/ajmg.1320280309

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


  3 in total

Review 1.  Walker-Warburg syndrome.

Authors:  Jiri Vajsar; Harry Schachter
Journal:  Orphanet J Rare Dis       Date:  2006-08-03       Impact factor: 4.123

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
  3 in total

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