Literature DB >> 7662999

A patient with Schinzel-Giedion syndrome and a review of 20 patients.

N Okamoto1, M Takeuchi, H Kitajima, S Hosokawa.   

Abstract

The Schinzel-Giedion syndrome is characterized by severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations. So far, 20 patients have been reported. This is the first report of the syndrome demonstrated in Oriental patients. In surviving patients, severe growth and developmental deficiency is a common finding.

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Year:  1995        PMID: 7662999     DOI: 10.1007/BF01883576

Source DB:  PubMed          Journal:  Jpn J Hum Genet        ISSN: 0916-8478


  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.  Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome.

Authors:  Nozomi Hishimura; Michiko Watari; Hiroki Ohata; Naho Fuseya; Sadae Wakiguchi; Tomoharu Tokutomi; Kouji Okuhara; Nobuhiro Takahashi; Susumu Iizuka; Hiroshi Yamamoto; Takashi Mishima; Satoko Fujieda; Ryoji Kobayashi; Kazutoshi Cho; Yukiko Kuroda; Kenji Kurosawa; Hidefumi Tonoki
Journal:  Clin Case Rep       Date:  2016-11-17
  3 in total

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