Journal of the Korean Pediatric Society 1991;34(11):1593-1597.
Published online November 30, 1991.
A case of cerebro-oculo-facio-skeletal syndrome.
Sung Shin Park, Ju Seok Maeng, Jae Ok Park, D. H Lee, S. J Lee
Department of Pediatrics, College of Medicine, Soon Chun Hyang University, Seoul, Korea
Cerebro-Oculo-Facio-Skeletal 증후군 1 례
박성신, 맹주석, 박재옥, 이동환, 이상주
순천향대학교 의과대학 소아과학교실
Received: 27 June 1991   • Accepted: 24 August 1991
Abstract
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 elbow & knee joint, ulnar drift of both hands, incomplete simian crease on left palm, pes planus, longitudinal groove on the soles along the second metatarsal.
Key Words: Cerebro-Oculo-Facio-Skeletal Syndrome




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