| 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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Department of Pediatrics, College of Medicine, Soon Chun Hyang University, Seoul, Korea |
| Cerebro-Oculo-Facio-Skeletal 증후군 1 례 |
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박성신, 맹주석, 박재옥, 이동환, 이상주 |
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순천향대학교 의과대학 소아과학교실 |
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Received: 27 June 1991 • Accepted: 24 August 1991 |
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| Abstract |
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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 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.
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| Key Words:
Cerebro-Oculo-Facio-Skeletal Syndrome |
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