Unusual ocular findings in an infant with cri-du-chat syndrome.
نویسندگان
چکیده
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.
منابع مشابه
Cri du Chat Syndrome: a Case Report with Recurrent Pneumonia and Chronic Stridor
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Three cases of cri du chat syndrome with varying ages of presentation are compared and contrasted to highlight the clinical features and evolution of the phenotype with time.
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 20 4 شماره
صفحات -
تاریخ انتشار 1983