- A Case of Cockayne Syndrome
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Choi JL, Kim KH, Hong HS, Kim WS
- KMID: 1683029
- J Korean Pediatr Soc.
- 1989 Oct;32(10):1422-1427.
No abstract available. -
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- A Case of Cockayne Syndrome
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Kim JY, Park JH, Lee JS, Coe CJ
- KMID: 1961854
- J Korean Child Neurol Soc.
- 1998 Oct;6(1):118-124.
Cockayne syndrome is a rare autosomal recessive disorder that results in postnatal growth failure and progressive neurological dysfunction. Associated clinical features are gait disturbance, progressive pigmentary retinopathy and other ocular... -
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- Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency
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Park SK, Chang SH, Cho SB, Baek HS, Lee DY
- KMID: 1422190
- J Korean Med Sci.
- 1994 Feb;9(1):74-77.
- doi: 10.3346/jkms.1994.9.1.74
Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, mental retardation, photosensitive dermatitis, loss of adipose tissue, pigmentary degeneration of retina, microcephaly,... -
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- A Case of Cockayne Syndrome with Focal Segmental Glomerulosclerosis
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Shin HK, Kim GH, Yim HE, Yoo KH, Hong YS, Lee JW, Won NH
- KMID: 1898242
- J Korean Soc Pediatr Nephrol.
- 2007 Apr;11(1):100-105.
Cockayne syndrome is a rare autosomal recessive disorder characterized by cachectic dwarfism, mental retardation, loss of facial subcutaneous adipose tissue, microcephaly and photosensitive dermatitis. It is associated with renal abnormalities... -
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- Cerebro-oculo-facio-skeletal syndrome: A case report
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Lee SH, Hong SJ, Lee JH, Oh SY, Kim SH, Kho DH, Kim KS
- KMID: 2280166
- Korean J Pediatr.
- 2008 Apr;51(4):435-438.
- doi: 10.3345/kjp.2008.51.4.435
The Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder characterized by multiple abnormalities that involve the brain, face, eyes, and extremities. COFS syndrome is regarded as a degenerative disorder... -
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