Literature DB >> 537022

A further case of a new syndrome including midface retraction, hypertrichosis, and skeletal anomalies.

D Donnai, R Harris.   

Abstract

The clinical and radiological features of a male child with multiple malformations are described. He appears to be an example of a new syndrome recently described by Schinzel and Giedion (1978).

Entities:  

Mesh：

Year:  1979        PMID： 537022      PMCID： PMC1012598          DOI： 10.1136/jmg.16.6.483

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  1 in total

1.  A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs.

Authors:  A Schinzel; A Giedion
Journal:  Am J Med Genet       Date:  1978
  1 in total
  8 in total

Review 1.  The Schinzel-Giedion syndrome.

Authors:  L I al-Gazali; P Farndon; J Burn; D B Flannery; C Davison; R F Mueller
Journal:  J Med Genet       Date:  1990-01       Impact factor: 6.318

2.  Schinzel-Giedion syndrome and congenital megacalyces.

Authors:  T E Herman; D A Sweetser; W H McAlister; S B Dowton
Journal:  Pediatr Radiol       Date:  1993

3.  A syndrome of midface retraction, multiple radiological anomalies, renal malformations and hypertrichosis.

Authors:  A Schinzel
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

Review 4.  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

5.  Neurosonography and pathology in the Schinzel-Giedion syndrome.

Authors:  A C Maclennan; D Doyle; R M Simpson
Journal:  J Med Genet       Date:  1991-08       Impact factor: 6.318

6.  Schinzel-Giedion syndrome.

Authors:  A Verloes; D Moës; L Palumbo; C Elmer; A François; G Bricteux
Journal:  Eur J Pediatr       Date:  1993-05       Impact factor: 3.183

7.  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

Review 8.  SETBP1 dysregulation in congenital disorders and myeloid neoplasms.

Authors:  Nicoletta Coccaro; Giuseppina Tota; Antonella Zagaria; Luisa Anelli; Giorgina Specchia; Francesco Albano
Journal:  Oncotarget       Date:  2017-04-19
  8 in total

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