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. 1975 Sep;12(3):289–293. doi: 10.1136/jmg.12.3.289

Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs.

C K Ho, R L Kaufman, S M Podos
PMCID: PMC1013291  PMID: 1177280

Abstract

An association of ocular colobomata and congenital heart disease was observed in seven patients. Two of these were maternal half sisters whose mother also had ocular colobomata. All the patients had normal karyotypes. There was a high incidence of other associated abnormalities involving the central nervous, skeletal, and urogenital systems. Discovery of an ocular coloboma should alert the clinician to search for other abnormalities.

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Selected References

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

  1. ANGELMAN H. Syndrome of coloboma with multiple congenital abnormalities in infancy. Br Med J. 1961 Apr 29;1(5234):1212–1214. doi: 10.1136/bmj.1.5234.1212. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Allderdice P. W., Davis J. G., Miller O. J., Klinger H. P., Warburton D., Miller D. A., Allen F. H., Jr, Abrams C. A., McGilvray E. The 13q-deletion syndrome. Am J Hum Genet. 1969 Sep;21(5):499–512. [PMC free article] [PubMed] [Google Scholar]
  3. BLOOMFIELD D. K. THE NATURAL HISTORY OF VENTRICULAR SEPTAL DEFECT IN PATIENTS SURVIVING INFANCY. Circulation. 1964 Jun;29:914–955. doi: 10.1161/01.cir.29.6.914. [DOI] [PubMed] [Google Scholar]
  4. Bilchik R. C., Zackai E. H., Smith M. E., Williams J. D. Anomalies with ring D chromosome. Am J Ophthalmol. 1972 Jan;73(1):83–89. doi: 10.1016/0002-9394(72)90310-8. [DOI] [PubMed] [Google Scholar]
  5. CULLEN J. F. OCULAR DEFECTS IN THALIDOMIDE BABIES. Br J Ophthalmol. 1964 Mar;48:151–153. doi: 10.1136/bjo.48.3.151. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Conen P. E., Erkman B., Metaxotou C. The "D" syndrome. Report of four trisomic and one D/D translocation case. Am J Dis Child. 1966 Mar;111(3):236–247. doi: 10.1001/archpedi.1966.02090060046002. [DOI] [PubMed] [Google Scholar]
  7. Francois J. Autosomal chromosome aberrations in ophthalmology. Int Ophthalmol Clin. 1968 Winter;8(4):839–910. [PubMed] [Google Scholar]
  8. Francois J. Colobomatous malformations of the ocular globe. Int Ophthalmol Clin. 1968 Winter;8(4):797–816. [PubMed] [Google Scholar]
  9. Franklin R. C., Parslow M. I. The cat-eye syndrome. Review and two further cases occurring in female siblings with normal chromosomes. Acta Paediatr Scand. 1972 Sep;61(5):581–586. doi: 10.1111/j.1651-2227.1972.tb15949.x. [DOI] [PubMed] [Google Scholar]
  10. Freedom R. M., Gerald P. S. Congenital cardiac disease and the "cat eye" syndrome. Am J Dis Child. 1973 Jul;126(1):16–18. doi: 10.1001/archpedi.1973.02110190012003. [DOI] [PubMed] [Google Scholar]
  11. Gardiner P. A., Joseph M. Eye defects in children with congenital heart lesions: a preliminary study. Dev Med Child Neurol. 1968 Feb;10(1):42–48. doi: 10.1111/j.1469-8749.1968.tb02836.x. [DOI] [PubMed] [Google Scholar]
  12. Goldberg M. F., McKusick V. A. X-linked colobomatous microphthalmos and other congenital anomalies. A disorder resembling Lenz's dysmorphogenetic syndrome. Am J Ophthalmol. 1971 May;71(5):1128–1133. doi: 10.1016/0002-9394(71)90588-5. [DOI] [PubMed] [Google Scholar]
  13. LELE K. P., DENT T., DELHANTY J. D. CHROMOSOME STUDIES IN FIVE CASES OF COLOBOMA OF THE IRIS. Lancet. 1965 Mar 13;1(7385):576–578. doi: 10.1016/s0140-6736(65)91148-7. [DOI] [PubMed] [Google Scholar]
  14. MACMAHON B., MCKEOWN T., RECORD R. G. The incidence and life expectation of children with congenital heart disease. Br Heart J. 1953 Apr;15(2):121–129. doi: 10.1136/hrt.15.2.121. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Orbeli D. J., Lurie I. W., Goroshenko J. L. The syndrome associated with the partial D-monosomy. Case report and review. Humangenetik. 1971;13(4):296–308. doi: 10.1007/BF00273945. [DOI] [PubMed] [Google Scholar]
  18. POLANI P. E., CAMPBELL M. An aetiological study of congenital heart disease. Ann Hum Genet. 1955 Feb;19(3):209–230. doi: 10.1111/j.1469-1809.1955.tb01345.x. [DOI] [PubMed] [Google Scholar]
  19. Quan L., Smith D. W. The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: a spectrum of associated defects. J Pediatr. 1973 Jan;82(1):104–107. doi: 10.1016/s0022-3476(73)80024-1. [DOI] [PubMed] [Google Scholar]
  20. ROLANDO D., JEMMA R. Su di una rara sindrome malformativa multipla (associazione di malformazioni oculari, cardiache e delle vie urinarie). Pediatria (Napoli) 1959 May-Jun;67(3):498–512. [PubMed] [Google Scholar]
  21. SCHACHENMANN G., SCHMID W., FRACCARO M., MANNINI A., TIEPOLO L., PERONA G. P., SARTORI E. CHROMOSOMES IN COLOBOMA AND ANAL ATRESIA. Lancet. 1965 Aug 7;2(7406):290–290. doi: 10.1016/s0140-6736(65)92415-3. [DOI] [PubMed] [Google Scholar]
  22. WEBER W. W., MAMUNES P., DAY R., MILLER P. TRISOMY 17-18(E): STUDIES IN LONG-TERM SURVIVAL WITH REPORT OF TWO AUTOPSIED CASES. Pediatrics. 1964 Oct;34:533–541. [PubMed] [Google Scholar]
  23. Warkany J., Passarge E., Smith L. B. Congenital malformations in autosomal trisomy syndromes. Am J Dis Child. 1966 Dec;112(6):502–517. doi: 10.1001/archpedi.1966.02090150046002. [DOI] [PubMed] [Google Scholar]

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