Kniest Dysplasia: New Radiographic Features in the Skeleton

Radiology Case Reports

Volumn 2, Issue 2, 2007, Pages 72-77

  Maldjian, Catherine ^a   Chew, Felix S ^b   Klein, Robert ^a   Bonakdarpour, Akbar ^c   McCarthy, James ^d   Kelly, John ^d  

^a WESTCHESTER MEDICAL CENTER   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c TEMPLE UNIVERSITY HOSPITAL   (United States)

^d SHRINERS HOSPITALS FOR CHILDREN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84964334157     PISSN: None     EISSN: 19300433     Source Type: Journal    
DOI: 10.2484/rcr.v2i2.89     Document Type: Article

References (18)

1. Lachman R, Rimoin D, Hollister D, et al. The Kniest Syndrome. AJR Am J Roentgenol 1975, 123:805-814. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=1147148&query_hl=9&itool=pubmed_docsum.
2. Kniest W Zur Abgrenzung der Dysostosis enchondralis von der Chondrodystrophie. Ztschr Kinderh 1952, 70:633-670.
3. Spranger J, Winterpacht A, Zabel B Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect. Am J Med Genet 1997, 69:79-84. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=9066888&query_hl=9&itool=pubmed_docsum.
4. Brill P, Kim H, Beratis N, Hirschorn K Skeletal Abnormalities in the Kniest Syndrome with Muchoploysacchariduria. AJR Am J Roentgenol 1975, 125:731-738. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=128300&query_hl=9&itool=pubmed_docsum.
5. Friede H, Matalon R, Harris V, Rosenthal IM Craniofacial and mucopolysaccharide abnormalities in Kniest dysplasia. J Craniofacial Genet Devel Biol 1985, 5:267-276. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=2931448&query_hl=9&itool=pubmed_docsum.
6. Taybi H, Lachman RS Radiology of syndromes, metabolic disorders, and skeletal dysplasias 1996, 833-836. Mosby, St. Louis. Fourth edition.
7. Gilbert-Barnes E, Langer LO, Opitz JM, Laxova R, Sotelo-Arila C Kniest dysplasia: radiologic, histopathological, and scanning electronmicroscopic findings. Am J Med Genet 1996, 63:34-45. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=8723084&query_hl=9&itool=pubmed_docsum.
8. Cole WG Abnormal skeletal growth in Kniest dysplasia caused by type II collagen mutations. Clin Orthop Relat Res 1997, 341:162-169. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=9269170&query_hl=9&itool=pubmed_docsum.
9. Winterpacht A, Superti-Furga A, Schwarze U, et al. The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type IX collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia. J Med Genet 1996, 33:649-654. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=8863156&query_hl=9&itool=pubmed_docsum.
10. Chen L, Yang W, Cole WG Alternative splicing of exon 12 of the COL2A1 gene interrupts the triple helix of type II collagen in the Kniest form of spondyloepiphyseal dysplasia. J Orthop Res 1996, 14:712-721. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=8893763&query_hl=9&itool=pubmed_docsum.
11. Wilkin DJ, Artz AS, South S, et al. Small deletions in the type II collagen triple helix produce Kniest dysplasia. Am J Med Genet 1999, 85:105-112. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=10406661&query_hl=9&itool=pubmed_docsum.
12. Spranger J, Winterpacht A, Zabel B The type II collagenopathies: a spectrum of chondrodysplasias. Eur J Pediatr 1994 Feb, 153(2):56-65. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=8157027&query_hl=9&itool=pubmed_docsum.
13. Freisinger P, Bonaventure J, Stoess H, et al. Type II collagenopathies: are there additional family members?. Am J Med Genet 1996, 63:137-143. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=8723099&query_hl=9&itool=pubmed_docsum.
14. Oestrich AE, Prenger EC MR demonstrates cartilaginous megaepiphyses of the hips in Kniest dysplasia of the young child. Pediatr Radiol 1992, 22:302-303. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=1523061&query_hl=9&itool=pubmed_docsum.
15. Almquist EE, Gordon LH, Blue A Congenital dislocation of the head of the radius. J Bone Joint Surg Am 1969, 51A(6):1118-1127. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=5306675&query_hl=9&itool=pubmed_docsum.
16. Mital MA Congenital radioulnar synostoses and congenital dislocation of the radial head. Orthop Clin North Am 1976, 7(2):375-383. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=1264432&query_hl=9&itool=pubmed_docsum.
17. Taybi H, Lachman RS Radiology of syndromes, metabolic disorders, and skeletal dysplasias 1996, 1025-1026. Mosby, St. Louis. Fourth edition.
18. Chesney D, Barker S, Miedzybrodzka Z, Haites N, Maffulli N Epidemiology and genetic theories in the etiology of congenital talipes equinovarus. Bull Hosp Jt Dis 1999, 58:59-64. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=10431636&query_hl=9&itool=pubmed_docsum.