• 1
    Unger S. A genetic approach to the diagnosis of skeletal dysplasia. Clin Orthop 2002; 401: 328.
  • 2
    International Nomenclature and Classification of the Osteochondrodysplasias 1997. International Working Group on Constitutional Diseases of Bone. Am J Med Genet 1998; 79: 37682.
  • 3
    Williams CJ, Jimenez SA. Heredity, genes and osteoarthritis. Rheum Dis Clin North Am 1993; 19: 52343.
  • 4
    Rimoin DL. Molecular defects in the chondrodysplasias. Am J Med Genet 1996; 63: 10610.
  • 5
    Bleasel JF, Holderbaum D, Mallock V, Haqqi TM, Williams HJ, Moskowitz RW. Hereditary osteoarthritis with mild spondyloepiphyseal dysplasia: are there “Hot Spots” on COL2A1? J Rheumatol 1996; 23: 15948.
  • 6
    Ala-Kokko L, Baldwin CT, Moskowitz RW, Prockop DJ. Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia. Proc Natl Acad Sci U S A 1990; 87: 65658.
  • 7
    Barber KE, Gow PJ, Mayo KM. A family with multiple musculoscletal abnormalities. Ann Rheum Dis 1984; 43: 27584.
  • 8
    Bleasel JF, Bisagni-Faure A, Holderbaum D, Vacher-Lavenu MC, Haqqi TM, Moskowitz RW, et al. Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis. J Rheumatol 1995; 22: 25561.
  • 9
    Chan D, Taylor TK, Cole WG. Characterization of an arginine 789 to cysteine substitution in a I(II) collagen chain of a patient with spondyloepiphyseal dysplasia. J Biol Chem 1993; 268: 1523845.
  • 10
    Pun YL, Moskowitz RW, Lie S, Sundstrom WR, Block SR, McEwen C, et al. Clinical correlations of osteoarthritis associated with a single-base mutation (Arginine519 to Cysteine) in type II procollagen gene: a newly defined pathogenesis. Arthritis Rheum 1994; 37: 2649.
  • 11
    Williams CJ, Considine EL, Knowlton RG, Reginato A, Neumann G, Harrison D, et al. Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75 – Cys mutation in procollagen type II gene (COL2A1). Hum Genet 1993; 92: 499505.
  • 12
    Williams CJ, Rock M, Considine E, McCarron S, Gow P, Ladda R, et al. Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-Cys base substitution using conformation sensitive gel electrophoresis. Hum Mol Genet 1995; 4: 30912.
  • 13
    Bleasel JF, Holderbaum D, Brancolini V, Moskowitz RW, Considine EL, Prockop DJ, et al. Five families with arginine519 – cysteine mutation in COL2A1: evidence for three distinct founders. Hum Mutat 1998; 12: 1726.
  • 14
    Reginato AJ, Passano GM, Neumann G, Falasca GF, Diaz-Valdez M, Jimenez SA, et al. Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75 [RIGHTWARDS ARROW] cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathological findings. Arthritis Rheum 1994; 37: 107886.
  • 15
    Schmorl G, Junghanns H. The human spine in health and disease. 2nd ed. New York: Grune & Statton; 1971. p. 34554.
  • 16
    Ozonoff MB. Juvenile kyphosis. In: Pediatric ortopedic radiology. Philadelphia: W. B. Saunders Company; 1992. p. 7983.
  • 17
    Greulich WW, Pyle SI. Radiographic atlas of skeletal development of the hand and wrist. Stanford (CA): Stanford University Press; 1959.
  • 18
    Korkko J, Cohn DH, Ala-Kokko L, Krakow D, Prockop DJ. Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. Am J Med Genet 2000; 92: 95100.
  • 19
    Mier RJ, Holderbaum D, Ferguson R, Moskowitz R. Osteoarthritis in children associated with a mutation in the type II procollagen gene (COL2A1). Mol Genet Metab 2001; 74: 33841.
  • 20
    Knowlton RG, Katzenstein PL, Moskowitz RW, Weaver EJ, Malemud CJ, Pathria MN, et al. Genetic linkage of a polymorphism in the type II procollagen gene (Col2A1) to primary osteoarthritis associated with mild chondrodysplasia. N Engl J Med 1990; 311: 52630.