Literature DB >> 10532180

Bilateral hydronephrosis due to megacalicosis as a prenatal sonographic finding in a female with Schinzel-Giedion syndrome.

O Rittinger, P Weiss-Wichert, G Hasenöhrl.   

Abstract

A case of Schinzel-Giedion syndrome, a rare malformation syndrome with a life expectancy of less than 2 years is described. Features present in this and previous cases are discussed. The association of agenesis of the corpus callosum with the Arnold-Chiari malformation found in this patient has not previously been described.

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Year:  1999        PMID: 10532180

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  3 in total

Review 1.  Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria.

Authors:  Wei-Liang Liu; Zhi-Xu He; Fang Li; Rong Ai; Hong-Wei Ma
Journal:  J Genet       Date:  2018-03       Impact factor: 1.166

2.  Clinical and radiological findings in Schinzel-Giedion syndrome.

Authors:  Mudaffer Al-Mudaffer; Christine Oley; Sue Price; Ian Hayes; Alison Stewart; Christine M Hall; William Reardon
Journal:  Eur J Pediatr       Date:  2008-05-07       Impact factor: 3.183

3.  Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features.

Authors:  Ozgul Bulut; Zeynep Ince; Umut Altunoglu; Sukran Yildirim; Asuman Coban
Journal:  Case Rep Genet       Date:  2017-12-03
  3 in total

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