All issues > Volume 34(11); 1991

Original Article

J Korean Pediatr Soc. 1991;34(11):1593-1597. Published online November 30, 1991.

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

Sung Shin Park¹, Ju Seok Maeng¹, Jae Ok Park¹, D. H Lee¹, S. J Lee¹

¹Department of Pediatrics, College of Medicine, Soon Chun Hyang University, Seoul, Korea

Received: June 27, 1991;  Accepted: August 24, 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.

Keywords :Cerebro-Oculo-Facio-Skeletal Syndrome