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Article
March 1963

13-15 TRISOMY WITH SEVERE OCULAR MALFORMATIONS

Author Affiliations

Department of Ophthalmology Laboratory of Ophthalmopathology Department of Pediatrics Rigshospitalet, Copenhagen, Denmark.
Institute for Human Genetics University of Copenhagen, Denmark.

Arch Ophthalmol. 1963;69(3):420. doi:10.1001/archopht.1963.00960040426031
Abstract

To the Editor:  —In your editorial of June, 1962, you urged ophthalmologists to look for the syndrome of 13-15 trisomy. This condition has been diagnosed twice in this country since then. Both cases occurred in female infants born to mothers aged 37 and 39 years, respectively. The patients presented monstrous bilateral cheilo-palato-gnatho-schisis, polydactyly, microcephaly, and varying degrees of microphthalmos. In all four eyes a coloboma was present in the inferior-nasal quadrants of the iris, and the nasal part of the posterior capsule of the lens was cataractous in all of the eyes. One of the infants is still alive; the other died at the age of two months. At the autopsy a falciform detachment was noted in each eye. Chromosome analysis on blood and skin culture in one infant and on blood culture alone in the other one showed 13-15 trisomy.A full account of the cases, including detailed histopathological

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