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http://dx.doi.org/10.5734/JGM.2012.9.2.93

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)
Publication Information
Journal of Genetic Medicine / v.9, no.2, 2012 , pp. 93-97 More about this Journal
Abstract
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.
Keywords
Kniest syndrome; Collagenopathy; Kyphoscoliosis;
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