Literature DB >> 1920374

Neurosonography and pathology in the Schinzel-Giedion syndrome.

A C Maclennan1, D Doyle, R M Simpson.   

Abstract

We describe a case of the Schinzel-Giedion syndrome, where increasing ventriculomegaly, intraventricular bands, and subependymal pseudocysts were shown by ultrasound of the head. Subsequent neuropathology confirmed the hydrocephalus.

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Year:  1991        PMID： 1920374      PMCID： PMC1016987          DOI： 10.1136/jmg.28.8.547

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


  6 in total

1.  Sub-ependymal pseudo-cysts in the newborn.

Authors:  J C Larroche
Journal:  Biol Neonate       Date:  1972

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

Authors:  D Donnai; R Harris
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

3.  Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome.

Authors:  R I Kelley; E H Zackai; E B Charney
Journal:  J Pediatr       Date:  1982-06       Impact factor: 4.406

4.  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

5.  Complicated infantile meningitis: evaluation by real-time sonography.

Authors:  M K Edwards; D L Brown; G T Chua
Journal:  AJNR Am J Neuroradiol       Date:  1982 Jul-Aug       Impact factor: 3.825

6.  Ventriculitis in the neonate: recognition by sonography.

Authors:  J D Reeder; R C Sanders
Journal:  AJNR Am J Neuroradiol       Date:  1983 Jan-Feb       Impact factor: 3.825
  6 in total
  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

Review 3.  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
  3 in total

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