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Unusual ocular findings in an infant with cri-du-chat syndrome.
  1. S Kitsiou-Tzeli,
  2. H D Dellagrammaticas,
  3. C B Papas,
  4. I D Ladas,
  5. C S Bartsocas

    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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