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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... |