Clinical and Experimental Pediatrics

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Original Article

A case of cerebro-oculo-facio-skeletal syndrome.

Sung Shin Park, Ju Seok Maeng, Jae Ok Park, D. H Lee, S. J Lee

Clin Exp Pediatr. 1991;34(11):1593-1597. Published online November 30, 1991

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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