Skip to main content
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1991 Aug;28(8):547–549. doi: 10.1136/jmg.28.8.547

Neurosonography and pathology in the Schinzel-Giedion syndrome.

A C Maclennan 1, D Doyle 1, R M Simpson 1
PMCID: PMC1016987  PMID: 1920374

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.

Full text

PDF
547

Images in this article

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. 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. doi: 10.1136/jmg.16.6.483. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Edwards M. K., Brown D. L., Chua G. T. Complicated infantile meningitis: evaluation by real-time sonography. AJNR Am J Neuroradiol. 1982 Jul-Aug;3(4):431–434. [PMC free article] [PubMed] [Google Scholar]
  3. Kelley R. I., Zackai E. H., Charney E. B. Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome. J Pediatr. 1982 Jun;100(6):943–946. doi: 10.1016/s0022-3476(82)80524-6. [DOI] [PubMed] [Google Scholar]
  4. Larroche J. C. Sub-ependymal pseudo-cysts in the newborn. Biol Neonate. 1972;21(3):170–183. doi: 10.1159/000240506. [DOI] [PubMed] [Google Scholar]
  5. Reeder J. D., Sanders R. C. Ventriculitis in the neonate: recognition by sonography. AJNR Am J Neuroradiol. 1983 Jan-Feb;4(1):37–41. [PMC free article] [PubMed] [Google Scholar]
  6. 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. doi: 10.1002/ajmg.1320010402. [DOI] [PubMed] [Google Scholar]

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

RESOURCES