References

Barker DJP, Chamberlain AT, Guyer PB, Gardner MJ. Paget's disease of bone: the Lancashire focus. Br Med J 1980; 280: 1105-7

Beighton P. Craniometaphyseal dysplasia (CMD), autosomal dominant form. J Med Genet 1995; 32:370-4 Beighton P, Hamersma H, Raad M. Oculodento-osseous dysplasia: heterogeneity or variable expression? Clin Genet 1979; 16: 169-77 Bollerslev J, Mosekilde L. Autosomal dominant osteopetrosis.

Clin Orthop Rel Res 1993; 294: 45-51 Brennan DD, Bruzzi JF, Thakore H, O'Keane JC, Eustace S. Osteosarcoma arising in a femur with melorheostosis and osteopathia striata. Skeletal Radiol 2002; 31:471-4 Brueton LA, Winter RM. Craniodiaphyseal dysplasia. J Med

Genet 1990; 27: 701-6 Chavanas S, Bodemer C, Rochat A, Hamel-Teillac D, Ali M, Irvine AD, Bonafe JL, Wilkinson J, Taieb A, Barrandon Y, Harper JI, de Prost Y, Hovnanian A. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syn-drome.Nat Genet 2000; 25: 141-2 Civitelli R, McAlister WH, Teitelbaum SL, Whyte MP. Central osteosclerosis with ectodermal dysplasia: clinical, laboratory, radiologic, and histopathologic characterization with review of the literature. J Bone Miner Res 1989; 4: 863-75 De Boer J, Andressoo JO, de Wit J, Huijmans J, Beems RB, van Steeg H, Weeda G, van der Horst GTJ, van Leeuwen W, Themmen APN, Meradji M, Hoeijmakers JHJ. Premature aging in mice deficient in DNA repair and transcription. Science 2002; 296: 1276-9 Elmore SM, Nance WE, McGee BJ, Engel-de Montmollin M, Engel E. Pycnodysostosis, with a familial chromosome anomaly. Am J Med 1966; 40: 273-82 Feld H, Switzer RA, Dexter MW, Langer EW. Familial metaphyseal dysplasia. Radiology 1955; 65: 206-12 Gardner MJ, Guyer PB, Barker DJP. Radiological prevalence of Paget's disease of bone in British migrants to Australia. Br Med J 1978; 1: 1655-7 Gillespie FD. A hereditary syndrome: "dysplasia oculoden-

todigitalis". Arch Ophthal 1964; 71: 187-92 Good DA, Busfield F, Fletcher BH, Duffy DL, Kesting JB, Andersen J, Shaw JTE. Linkage of Paget disease of bone to a novel region on human chromosome 18q23. Am J Hum Genet 2002;70:517-25 Gorlin RJ, Meskin LH, Geme JW. Oculodentodigital dysplasia.

J Pediatr 1963; 63: 69-75 Gorlin RJ, Whitley CB. Lenz-Majewski syndrome. Radiology

1983;149: 129-31 Greenspan A. Sclerosing bone dysplasias - a target-site approach. Skeletal Radiol 1991; 20: 561-83 Greenspan A, Steiner G, Knutzon R. Bone island (enostosis): clinical significance and radiologic and pathologic correlations. Skeletal Radiol 1991; 20: 85-90 Hall FM, Goldberg RP, Davies JA, Fainsinger MH. Scintigraphic assessment of bone islands. Radiology 1980; 135: 737-42 Hamdy RC. Clinical features and pharmacologic treatment of Paget's disease. Endocrinol Metab Clin North Am 1995; 24: 421-36

Hart TC, Bowden DW, Bolyard J, Kula K, Hall K, Wright JT. Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21. Hum Mol Genet 1997; 6: 2279-84

Harvey L, Gray T, Beneton MNC, Douglas DL, Kanis JA, Russell RGG. Ultrastructural features of the osteoclasts from Paget's disease of bone in relation to a viral aetiology. J Clin Pathol 1982;35:771-9 Holt JF, Thompson GR, Arenberg IK. Frontometaphyseal dysplasia. Radiol Clin North Am 1972; 10: 225-43 Horan FT, Beighton PH. Osteopathia striata with cranial sclerosis. An autosomal dominant entity. Clin Genet 1978; 13: 201-6

Hughes AE, Ralston SH, Marken J, Bell C, MacPherson H, Wallace RG, van Hul W, Whyte MP, Nakatsuka K, Hovy L, Anderson DM. Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. Nat Genet 2000; 24: 45-8 John E, Kozlowski K, Masel J, Muralinath S, Vijayalakshmi G.

Dysosteosclerosis. Austr Radiol 1996; 40: 345-7 Jones JV, Reed MF. Paget's disease: a family with six cases. Br

Med J 1967; 2: 90-1 Klein RM, Norman A. Diagnostic procedures for Paget's disease: radiologic, pathologic, and laboratory testing. Endocrinol Metab Clin North Am 1995; 24: 437-50 Laurin N, Brown JP, Lemainque A, Duchesne A, Huot D, La-courciere Y, Drapeau G, Verreault J, Raymond V, Morissette J. Paget disease of bone: mapping at loci at 5q35-qter and 5q31. Am J Hum Genet 2001; 69: 528-43 Lichtenstein JR, Warson RW, Jorgenson RJ, McKusick VA. The tricho-dento-osseous syndrome.Am J Hum Genet 1972; 24: 569-82

Lievre JA, Fischgold H. Leontiasis ossea chez l'enfant (osteo-

petrose partielle probable). Presse Med 1956; 64: 763-5 Loddenkemper T, Grote K, Evers S, Oelerich M, Stogbauer F. Neurological manifestations of the oculodentodigital dys-plasia syndrome. J Neurol 2002; 249: 584-95 Maroteaux P. L'osteomesopycnose: une nouvelle affection condensante de transmission dominante autosomique. Arch Franc Pediatr 1980; 37: 153-7 McKusick VA. Paget's disease of the bone. Heritable disorders of connective tissue. C.V. Mosby Company, St. Louis, 1960 (3rd ed.), pp. 718-23 Melnick JC: Osteopathia condensans disseminata (osteopoik-ilosis): a study of a family of 4 generations. AJR Am J Roentgenol 1959; 82: 223-8 Mills BG, Singer FR. Nuclear inclusions in Paget's disease of bone. Science 1976; 194: 201-2 Morales-Piga AA, Rey-Rey JS, Corres-Gonzalez J, Garcia-Sagredo JM, Lopez-Abente G. Frequency and characteristics of familial aggregation of Paget's disease of bone. J Bone Miner Res 1995; 10: 663-70 Netherton EW. A unique case of trichorrhexis nodosa: "bamboo hairs". Arch Dermatol 1958; 78: 483-7 Norman A, Greenspan A. Sclerosing dysplasias of bone. In: Taveras FM, Ferrucci JT (eds.) Radiology - diagnosis, imaging, intervention. Lippincott, Philadelphia, 1986 Paget J. On a form of chronic inflammation of bones (osteitis deformans). Med Chir Trans 1877; 60:37-63 Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.Am J Hum Genet 2003; 72: 408-18 Porter PS, Starke JC. Netherton's syndrome. Arch Dis Child 1968; 43:319-22

Price JA, Bowden DW, Wright JT, Pettenati MJ, Hart TC. Identification of a mutation in DLX3 associated with tricho-den-to-osseous (TDO) syndrome. Hum Mol Genet 1998; 7: 563-9

Price VH, Odom RB, Ward WH, Jones FT. Trichothiodystrophy. Sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex.Arch Dermatol 1980; 116:1375-84 Quattromani F, Shapiro SD,Young RS, Jorgenson RJ, Parker JW, Blumhardt R, Reece RR. Clinical heterogeneity in the tri-cho-dento-osseous syndrome. Hum Genet 1983; 64:116-21 Resnick D, Niwayama G. Paget's disease. In: Resnick D (ed.) Diagnosis of joint and bone disorders. W.B. Saunders Company, Philadelphia, 1995 (3rd ed.), pp. 1923-68 Robinson GC, Miller JR. Hereditary enamel hypoplasia, its association with characteristic hair structure. Pediatrics 1966; 37: 498-502 Rubin P. Dynamic classification of bone dysplasias. Year Book

Medical Publishers, Chicago, 1964 Siris ES. Epidemiological aspects of Paget's disease: family history and relationship to other medical conditions. Semin Arthritis Rheum 1994; 23: 222-5 Smith DL, Smith JG, Wong SW, deShazo RD. Netherton's syndrome: a syndrome of elevated IgE and characteristic skin and hair findings. J Allergy Clin Immunol 1995; 95:116-23 Smith J. Giant bone islands. Radiology 1973; 107:35-6 Spranger J. International classification of osteochondrodys-plasias. The International Working Group on Constitutional Diseases of Bone. Eur J Pediatr 1992; 151:407-15 Spranger JW, Albrecht C, Rohwedder HJ,Wiedemann H-R. Die Dysosteosklerose: eine Sonderform der generalisierten Osteosklerose. Fortschr Roentgenstr 1968; 109: 504-12 Stoll CG, Collin D, Dreyfus J. Osteomesopyknosis: an autosomal dominant osteosclerosis. Am J Med Genet 1981; 8: 349-53

Stoll CG, Alembik Y, Tchomakov D, Messer J, Heid E, Boehm N, Calvas P, Hovnanian A. Severe hypernatremic dehydration in an infant with Netherton syndrome. Genet Couns 2001; 12:237-43

Tay CH. Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation: a new recessive disorder.Arch Dermatol 1971; 104:4-13 Traboulsi EI, Faris BM, Der Kaloustian VM. Persistent hyper-plastic primary vitreous and recessive oculo-dento-os-seous dysplasia. Am J Med Genet 1986; 24:95-100 Whyte MP. Searching for gene defects that cause high bone mass. Am J Hum Genet 1997; 60:1309-11 Whyte MP, Fallon MD, Murphy WA, Teitelbaum SL. Axial osteomalacia: clinical, laboratory and genetic investigation of an affected mother and son.Am J Med 1981; 71:1041-9

Was this article helpful?

0 0
Osteoarthritis

Osteoarthritis

Thank you for deciding to learn more about the disorder, Osteoarthritis. Inside these pages, you will learn what it is, who is most at risk for developing it, what causes it, and some treatment plans to help those that do have it feel better. While there is no definitive “cure” for Osteoarthritis, there are ways in which individuals can improve their quality of life and change the discomfort level to one that can be tolerated on a daily basis.

Get My Free Ebook


Post a comment