Skip to main content
Log in

Eye findings in the 13 trisomy syndrome

  • Published:
European Journal of Pediatrics Aims and scope Submit manuscript

Abstract

The gross and microscopic eye findings in the first historic case of the 13-trisomy syndrome included: severe microphthalmia, coloboma of the ciliary body, cataracts, detached retina, and retinal dysplasia.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Atkins, L., Rosenthal, M. K.: Multiple congenital abnormalities associated with chromosomal trisomy. New Eng. J. Med. 265, 314–318 (1961)

    Google Scholar 

  • Colacino, S. C.: An anatomical study of the 13 trisomy syndrome based on four cases. Ph. D. Thesis, Dept. Anatomy, University of Wisconsin, Madison, Wis. U.S.A., 1976

    Google Scholar 

  • Conen, P. E., Phillips, K. G., Maunter, L. S.: Multiple developmental anomalies and trisomy of a 13–15 group chromosome (‘D’ Syndrome). Canad. Med. Ass. J. 87, 709–712 (1962)

    Google Scholar 

  • Duke-Elder, S.: System of Ophthalmology. Vol. 3, Part 2, p. 342. St. Louis: C. V. Mosby Co. 1963

    Google Scholar 

  • François, J., Matton-Van Leuven, M. T.: Chromosome abnormalities and ophthalmology. J. Pediat. Ophthal. 1, 5–17 (1964)

    Google Scholar 

  • Marin-Padilla, M., Hoefnagel, D., Benirschke, K.: Anatomic and histopathologic study of two cases of D1 (13–15) trisomy. Cytogenetics 3, 258–284 (1964)

    Google Scholar 

  • Miller, I. Q., Picard, E. H., Alkan, M. K., Warner, S., Gerald, P. S.: A specific congenital brain defect (arhinencephaly) in 13–15 trisomy. New. Engl. J. Med. 268, 120–124 (1963)

    Google Scholar 

  • Miller, M., Robbins, I., Fishman, R., Medenis, R., Rosenthal, I.: A chromosomal anomaly with multiple ocular defects, including retinal dysplasia. Am. J. Ophthal. 55, 901–910 (1963)

    Google Scholar 

  • Mottet, N. K., Jensen, H.: The anomalous embryonic development associated with trisomy 13–15. Am. J. Clin. Path. 43, 334–347 (1965)

    Google Scholar 

  • Patau, K., Smith, D. W., Therman, E., Inhorn, S. L., Wagner, H. P.: Multiple congenital anomaly caused by an extra autosome. Lancet 1960 I, 790–793

  • Polani, P. E.: Autosomal imbalances and its syndromes, excluding Down's. Br. Med. Bull. 25, 81–93 (1969)

    Google Scholar 

  • Smith, D. W., Patau, K., Therman, E., Inhorn, S. L., DeMars, R. I.: The D1 trisomy syndrome. J. Pediat. 62, 326–341 (1963)

    Google Scholar 

  • Smith, D. W.: The 18 trisomy and 13 trisomy syndromes. In: Endocrine and Genetic Diseases of Childhood and Adolescence; Second Edition (ed. L. I. Gardner), pp. 715–729. Philadelphia: W. B. Saunders 1975

    Google Scholar 

  • Snodgrass, G. J. A. I., Butler, L. J., France, N. E., Crome, L., Russell, A.: The ‘D’ (13–15) trisomy syndrome: an analysis of 7 examples. Arch. Dis. Child. 41, 250–261 (1966)

    Google Scholar 

  • Taylor, A. I., Polani, P. E.: Autosomal trisomy syndromes excluding Down's. Guy's Hosp. Rept. 113, 231–249 (1964)

    Google Scholar 

  • Taylor, A. I.: Patau's, Edwards' and cri du chat syndromes: a tabulated summary of current findings. Developm. Med. Child Neurol. 9, 78–86 (1967)

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Additional information

Supported, in part, by DHEW/USPH Grant GM20 130 from the National Institute of General Medical Science. Contributed, in part, as paper No. 2053 from the University of Wisconsin Genetic Laboratory

Rights and permissions

Reprints and permissions

About this article

Cite this article

Allen, J.C., de Venecia, G. & Opitz, J.M. Eye findings in the 13 trisomy syndrome. Eur J Pediatr 124, 179–183 (1977). https://doi.org/10.1007/BF00452109

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00452109

Key words

Navigation