Search tips
Search criteria 


Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
J Med Genet. 1991 August; 28(8): 547–549.
PMCID: PMC1016987

Neurosonography and pathology in the Schinzel-Giedion syndrome.


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.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (514K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Images in this article

Click on the image to see a larger version.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Schinzel A, Giedion A. A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. Am J Med Genet. 1978;1(4):361–375. [PubMed]
  • Donnai D, Harris R. A further case of a new syndrome including midface retraction, hypertrichosis, and skeletal anomalies. J Med Genet. 1979 Dec;16(6):483–486. [PMC free article] [PubMed]
  • Kelley RI, Zackai EH, Charney EB. Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome. J Pediatr. 1982 Jun;100(6):943–946. [PubMed]
  • Edwards MK, Brown DL, Chua GT. Complicated infantile meningitis: evaluation by real-time sonography. AJNR Am J Neuroradiol. 1982 Jul-Aug;3(4):431–434. [PubMed]
  • Reeder JD, Sanders RC. Ventriculitis in the neonate: recognition by sonography. AJNR Am J Neuroradiol. 1983 Jan-Feb;4(1):37–41. [PubMed]
  • Larroche JC. Sub-ependymal pseudo-cysts in the newborn. Biol Neonate. 1972;21(3):170–183. [PubMed]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group