Journal of Genetic Medicine

  • 제9권2호
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  • Pages.93-97
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  • 2012
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  • 1226-1769(pISSN)
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  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
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A Korean Patient with Kniest Syndrome associated with Lipomeningomyelocele

  • Min, Hye Won (Department of Clinical Genetics, Yonsei University College of Medicine) ;
  • Koo, Kyo Yeon (Department of Clinical Genetics, Yonsei University College of Medicine) ;
  • Lee, Chul Ho (Department of Clinical Genetics, Yonsei University College of Medicine) ;
  • Yang, Jeong Yoon (Department of Clinical Genetics, Yonsei University College of Medicine) ;
  • Lee, Jin-Sung (Department of Clinical Genetics, Yonsei University College of Medicine)
  • 투고 : 2012.11.13
  • 심사 : 2012.12.22
  • 발행 : 2012.12.31
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초록

Kniest syndrome (OMIM #156550) is a rare autosomal dominant disorder caused by a dysfunction of type II collagen, which is encoded by the COL2A1 gene (OMIM +120140) mapped to chromosome 12q13.11. Type II collagen, a molecule found mostly in the cartilage and vitreous tissues, is essential for the normal development of bones and other connective tissues. Kniest syndrome is a type II collagenopathy that presents as skeletal abnormality associated with disproportionate dwarfism, kyphoscoliosis, enlarged joints, visual loss, hearing loss, and cleft palate. This report describes a Korean patient with Kniest syndrome who was diagnosed with typical clinical features and radiologic findings. The patient presented with disproportionately short stature and kyphoscoliosis from birth. A skeletal survey revealed fused lamina in the thoracic spine, hemivertebrae, flexion deformities in multiple joints, and plagiocephaly.

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참고문헌

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