microphtalmia as a sign of hidden cns anomalies?

نویسندگان

فائزه مجاهدی

faezeh mojahedi

چکیده

microphthalmia is defined as a globe with a total axial length that is at least two standard deviations below the mean for age. it may be isolated or part of a syndrome with other associated anomalies. causes can be divided into environmental, heritable or unknown. some researchers believe that microphthalmia and anophthalmia belong to one family. unilateral and bilateral anophtalmia have been reported in association with basal encephalocele and other cns anomalies such as gray-matter heterotopias and agenesis of corpus callosum. in this report, some cases with unilateral microphthalmia and cns anomalies are reported. microphthalmic patients were enrolled in imaging studies after complete physical examinations including ophthalmologic evaluation and paraclinic studies were done. patients who could not be classified under known categories were selected for imaging studies. septo-optic dysplasia, a variant of joubert syndrome, and agenesis of corpus callosum were reported based on brain mri.

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عنوان ژورنال:
genetics in the 3rd millennium

جلد ۷، شماره ۳، صفحات ۱۷۸۱-۱۷۸۲

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