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Kniest Dysplasia

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Atlas of Genetic Diagnosis and Counseling

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Abstract

In 1952, Kniest (1952) described an unusual form of disproportional dwarfism, called “atypical chondrodystrophy.” Kniest dysplasia is a type II collagenopathy with characteristic clinical, radiographic, and histological findings. Kniest dysplasia is distinguished by platyspondyly and delay in ossification of the proximal epiphyses. After ossification, the epiphyses are enlarged resulting in dumbbell-shaped long bones.

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References

  • Barat-Houari, M., Dumont, B., Fabre, A., et al. (2015). The expanding spectrum of COL2A1 gene variants in 136 patients with a skeletal dysplasia phenotype. European Journal of Human Genetics, 2015 December 2. [Epub ahead of print]

    Google Scholar 

  • Bromley, B., Miller, W., Foster, S. C., et al. (1991). The prenatal sonographic features of Kniest syndrome. Journal of Ultrasound in Medicine, 10, 705–707.

    Article  CAS  PubMed  Google Scholar 

  • Chen, H., Yang, S. S., & Gonzalez, E. (1980). Kniest dysplasia: Neonatal death with necropsy. American Journal of Medical Genetics, 6, 171–178.

    Article  CAS  PubMed  Google Scholar 

  • Cole, W. G. (1997). Abnormal skeletal growth in Kniest dysplasia caused by type II collagen mutations. Clinical Orthopaedics and Related Research, 341, 162–169.

    Article  Google Scholar 

  • Douglas, G. R. (1985). The ocular findings in Kniest dysplasia. American Journal of Ophthalmology, 100, 860–861.

    Article  CAS  PubMed  Google Scholar 

  • Dwek, J. R. (2005). Kniest dysplasia: MR correlation of histologic and radiographic peculiarities. Pediatric Radiology, 35, 191–193.

    Article  PubMed  Google Scholar 

  • Gilbert-Barnes, E., Langer, L. O., Jr., Opitz, J. M., et al. (1996). Kniest dysplasia: Radiologic, histopathological, and scanning electronmicroscopic findings. American Journal of Medical Genetics, 63, 34–45.

    Article  CAS  PubMed  Google Scholar 

  • Hicks, J., De Jong, A., Barrish, J., et al. (2001). Tracheomalacia in a neonate with Kniest dysplasia: Histopathologic and ultrastructural features. Ultrastructural Pathology, 25, 79–83.

    Article  CAS  PubMed  Google Scholar 

  • Horton, W. A., & Rimoin, D. L. (1979). Kniest dysplasia. A histochemical study of the growth plate. Pediatric Research, 13, 1266–1270.

    Article  CAS  PubMed  Google Scholar 

  • Kniest, W. (1952). Zur Abgrenzung der Dysostosis enchondralis von der Chondrodystophie. Ztschr Kinderh, 70, 633–640.

    Article  CAS  Google Scholar 

  • Kozlowski, K., Barylak, A., & Kobielowa, Z. (1977). Kniest syndrome (report of two cases). Australasian Radiology, 21, 60–67.

    Article  CAS  PubMed  Google Scholar 

  • Lachman, R. S., Rimoin, D. L., Hollister, D. W., et al. (1975). The Kniest syndrome. The American Journal of Roentgenology, Radium Therapy, and Nuclear Medicine, 123, 805–814.

    Article  CAS  PubMed  Google Scholar 

  • Maumenee, I. H., & Traboulsi, E. I. (1985). The ocular findings in Kniest dysplasia. American Journal of Ophthalmology, 100, 155–160.

    Article  CAS  PubMed  Google Scholar 

  • Nagendran, S., Richards, A. J., McNinch, A., et al. (2012). Somatic mosaicism and the phenotypic expression of COL2A1 mutations. American Journal of Medical Genetics Part A, 158A, 1204–1207.

    Article  PubMed  Google Scholar 

  • Sergouniotis, P., Fincham, G. S., McNinch, A. M., et al. (2015). Ophthalmic and molecular genetic findings in Kniest dysplasia. Eye, 29, 475–482.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Siggers, C. D., Rimoin, D. L., Dorst, J. P., et al. (1974). The Kniest syndrome. Birth Defects Original Article Series, 10, 193–208.

    CAS  PubMed  Google Scholar 

  • Spranger, J. W., & Maroteaux, P. (1974). Kniest disease. Birth Defects Original Article Series, X(12), 50–56.

    Google Scholar 

  • Spranger, J., Menger, H., Mundlos, S., et al. (1994a). Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: Parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia. Pediatric Radiology, 24, 431–435.

    Article  CAS  PubMed  Google Scholar 

  • Spranger, J., Winterpacht, A., & Zabel, B. (1994b). The type II collagenopathies: A spectrum of chondrodysplasias. European Journal of Pediatrics, 153, 56–65.

    CAS  PubMed  Google Scholar 

  • Spranger, J., Winterpacht, A., & Zabel, B. (1997). Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect. American Journal of Medical Genetics, 69, 79–84.

    Article  CAS  PubMed  Google Scholar 

  • Wada, R., Sawai, H., Nishimura, G., et al. (2011). Prenatal diagnosis of Kniest dysplasia with three-dimensional helical computed tomography. Journal of Maternal-Fetal and Neonatal Medicine, 24, 1181–1184.

    Article  PubMed  Google Scholar 

  • Wilkin, D. J., Bogaert, R., Lachman, R. S., et al. (1994). A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia. Human Molecular Genetics, 3, 1999–2003.

    Article  CAS  PubMed  Google Scholar 

  • Wilkin, D. J., Artz, A. S., South, S., et al. (1999). Small deletions in the type II collagen triple helix produce Kniest dysplasia. American Journal of Medical Genetics, 85, 105–112.

    Article  CAS  PubMed  Google Scholar 

  • Winterpacht, A., Hilbert, M., Schwarze, U., et al. (1993). Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect. Nature Genetics, 3, 323–326.

    Article  CAS  PubMed  Google Scholar 

  • Yazici, Z., Kline-Fath, B. M., Laor, T., et al. (2010). Fetal MR imaging of Kniest dysplasia. Pediatric Radiology, 40, 348–352.

    Article  PubMed  Google Scholar 

  • Yokoyama, T., Nakatani, S., & Murakami, A. (2003). A case of Kniest dysplasia with retinal detachment and the mutation analysis. American Journal of Ophthalmology, 136, 1186–1188.

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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  1. Harold Chen
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Chen, H. (2017). Kniest Dysplasia. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_144

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_144

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

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