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Introduction: COFS(Cerebro-Oculo-Facio-Skeletal) Syndrome, also known as Cockayne syndrome type II, a very rare autosomal recessive progressive neurodegenerative disorder, characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism and arthrogryposis, first described in the early 1970s. We report a Korean infant with clinically diagnosed COFS syndrome.

Case Description: A 1-day-old male was admitted NICU with weak crying and dyspnea. He was the first child of healthy parent. His birth history included Caesarean section due to placenta abruptio at 37 weeks of gestation with a weight of 2,500gm. Apgar point at 1/5 min were 6/8. After admission, a physical examination performed and we found microcephaly, anteverted nostrile, low set ear, micrognathia, high arched palate, both simian line, clenched hand, right retinal hemorrhage, hypertonia and whole body spastic posture. There were normal results such as chromosome study, newborn tandem mass screening, Electroencephalography, abdominal ultrasound findings and ERCC6 gene mutation test. but we found corpus callosum agenesis via brain MRI and small PDA via cardiac echography. Now, his age is 13 months but same posture as birth. We clinically diagnosed COFS syndrome.

Conclusions: We report a Korean infant who have characterized the clinical symptoms of COFS syndrome from birth.

COFS syndrome, Korean, ERCC6