Skip to main content
NCBI home page
Journal of Neurology, Neurosurgery, and Psychiatry logoLink to Journal of Neurology, Neurosurgery, and Psychiatry
. 1974 Dec;37(12):1299–1305. doi: 10.1136/jnnp.37.12.1299

Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones

P A Bhaskar 1, K Jagannathan 1, K Valmikinathan 1
PMCID: PMC1083643  PMID: 4448994

Abstract

Two male cousins are reported with arachnodactyly, selective aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones, and a distant female relative with similar abnormalities. The syndrome is thought to be previously undescribed, though it has resemblances to Marinesco-Sjögren and Marfan's syndromes.

Full text

PDF
1299

Images in this article

1300Image
on p.1300
1300Image
on p.1300
1300Image
on p.1300
1301Image
on p.1301
1301Image
on p.1301
1301Image
on p.1301
1302Image
on p.1302

Selected References

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

  1. ALTER M., TALBERT O. R., CROFFEAD G. Cerebellar ataxia, congenital cataracts, and retarded somatic and mental maturation. Report of cases of Marinesco-Sjogren syndrome. Neurology. 1962 Dec;12:836–847. doi: 10.1212/wnl.12.12.836. [DOI] [PubMed] [Google Scholar]
  2. Alter M., Kennedy W. The Marinesco-Sjogren syndrome. Hereditary cerebello-lental degeneration with mental retardation. Minn Med. 1968 Jul;51(7):901–906. [PubMed] [Google Scholar]
  3. CROME L., DUCKETT S., FRANKLIN A. W. CONGENITAL CATARACTS, RENAL TUBULAR NECROSIS AND ENCEPHALOPATHY IN TWO SISTERS. Arch Dis Child. 1963 Oct;38:505–515. doi: 10.1136/adc.38.201.505. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Carrieri G., Di Gennaro C. Sulla sindrome di Marinesco-Sjogren. (Osservazione di due casi familiari) G Psichiatr Neuropatol. 1965;93(2):667–681. [PubMed] [Google Scholar]
  5. Chutorian A., Rowland L. P. Lowe's syndrome. Neurology. 1966 Feb;16(2):115–122. doi: 10.1212/wnl.16.2_part_1.115. [DOI] [PubMed] [Google Scholar]
  6. DUREUX J. B., CORDIER J., ZIZA P., TRIDON P. Hérédo-ataxie, cataracte et oligophrénie (syndrome de Marinesco-Sjögren). Rev Neurol (Paris) 1958 Jun;98(6):777–781. [PubMed] [Google Scholar]
  7. Dunn H. G., Perry T. L., Dolman C. L. Homocystinuria. A recently discovered cause of mental defect and cerebrovascular thrombosis. Neurology. 1966 Apr;16(4):407–420. doi: 10.1212/wnl.16.4.407. [DOI] [PubMed] [Google Scholar]
  8. GARLAND H., MOORHOUSE D. An extremely rare recessive hereditary syndrome including cerebellar ataxia, oligophrenia, cataract, and other features. J Neurol Neurosurg Psychiatry. 1953 May;16(2):110–116. doi: 10.1136/jnnp.16.2.110. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. LOWE C. U., TERREY M., MacLACHLAN E. A. Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity. AMA Am J Dis Child. 1952 Feb;83(2):164–184. doi: 10.1001/archpedi.1952.02040060030004. [DOI] [PubMed] [Google Scholar]
  10. MACGILLIVRAY R. C. Oligophrenia, cerebellar ataxia and cataract; the syndrome of Marinesco-Garland. Am J Ment Defic. 1957 Apr;61(4):719–724. [PubMed] [Google Scholar]
  11. SJOGREN T. Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia; a genetic and clinical investigation. Confin Neurol. 1950;10(5):293–308. [PubMed] [Google Scholar]
  12. Sagel I., Ores R. O., Yuceoglu A. M. Renal function and morphology in a girl with oculocerebrorenal syndrome. J Pediatr. 1970 Jul;77(1):124–127. doi: 10.1016/s0022-3476(70)80056-7. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Neurology, Neurosurgery, and Psychiatry are provided here courtesy of BMJ Publishing Group

RESOURCES