- Original Article
- A case of cerebro-oculo-facio-skeletal syndrome.
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Sung Shin Park, Ju Seok Maeng, Jae Ok Park, D. H Lee, S. J Lee
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Clin Exp Pediatr. 1991;34(11):1593-1597. Published online November 30, 1991
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COFS syndrome has been recognized as an autosomal recessive, apparently degenerative problem
of the brian and spinal cord that usually manifest before birth.
We experienced a female neonate of COFS syndrome, with multiple malformation wiich were,
charaterized by low birth weight, microcephaly, microphthalmia, blepharophimosis, nystagmus,
deep-set eyes, optic nerve hypoplsia, prominent nasal brideg, upper lip overlapping lower lip,
micrognathia, retrognathia, widely set nipple, contracture of... |
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