Search

  • HOME
  • Search
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...
  • PubMed Central
  • PubMed
  • Scopus
  • Directory of Open Access Journals (DOAJ)