PubMed:16317307 / 241-253
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Cerebro-oculo-facio-skeletal syndrome complicated by congenital ichthyosis.
We report a male patient with typical features of cerebro-oculo-facio-skeletal syndrome, diagnosed on the basis of the characteristic facies, joint contractures and microcephaly, but complicated by congenital ichthyosis on his face, trunk and limbs.
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