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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1983 Aug;20(4):304–307. doi: 10.1136/jmg.20.4.304

Unusual ocular findings in an infant with cri-du-chat syndrome.

S Kitsiou-Tzeli, H D Dellagrammaticas, C B Papas, I D Ladas, C S Bartsocas
PMCID: PMC1049125  PMID: 6620332

Abstract

A newborn male with cri-du-chat syndrome, congenital nuclear cataracts, microspherophakia, and probably ectopic lenses is reported. Microspherophakia in cri-du-chat syndrome has not been previously described. The congenital cataracts were inherited from his mother who had a balanced 5;13 translocation; the two events are considered to be coincidental and a possible 'position effect' was excluded, since the other members of her family with congenital cataracts, were chromosomally normal. This is the fourth case reported where familial cri-du-chat syndrome involves chromosomes 5p and 13q.

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Selected References

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

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