Bone Formation pp 120-137 | Cite as

Diseases of Excess Bone Formation

  • William McLean
  • Bjorn R. Olsen
Part of the Topics in Bone Biology book series (TBB, volume 1)


The skeleton is an organ system composed of several specific tissue types, including cartilage and bone. It provides support and protection for soft tissues and other organs of the body, allows for movement through coordinated activities with the neuromuscular system, and is essential for maintenance of calcium homeostasis.


Malignant Fibrous Histiocytoma Autosomal Recessive Increase Bone Density Bone Dysplasia Amelogenesis Imperfecta 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Al Mane KA, Coates RK, McDonald P (1996) Intra-cranial calcification in Raine syndrome. Pediatr Radiol 26: 55–8.PubMedCrossRefGoogle Scholar
  2. 2.
    al-Mane K, al-Dayel F, McDonald P (1998) Intracranial calcification in Raine syndrome: radiological pathological correlation. Pediatr Radiol 28: 820–3.PubMedCrossRefGoogle Scholar
  3. 3.
    Anderson RE, Schraer H, Gay CV (1982) Ultrastructural immunocytochemical localization of carbonic anhydrase in normal and calcitonin-treated chick osteoclasts. Anat Rec 204: 9–20.PubMedCrossRefGoogle Scholar
  4. 4.
    Balemans W, Ebeling M, Patel N, Van Hul E, Olson P, Dioszegi M, et al. (2001) Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein ( SOST ). Hum Mol Genet 10: 537–43.Google Scholar
  5. 5.
    Balemans W, Patel N, Ebeling M, Van Hul E, Wuyts W, Lacza C, et al. (2002) Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. J Med Genet 39: 91–7.PubMedCrossRefGoogle Scholar
  6. 6.
    Balemans W, Van Den Ende J, Freire Paes-Alves A, Dikkers FG, Willems PJ, et al. (1999) Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12–q21. Am J Hum Genet 64: 1661–9.PubMedCrossRefGoogle Scholar
  7. 7.
    Bayes M, Elomaa O, Schlessinger D, Kere J, Ezer S (1999) Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells. Hum Mol Genet 8: 2079–86.PubMedCrossRefGoogle Scholar
  8. 8.
    Beals RK, McLoughlin SW, Teed RL, McDonald C (2001) Dominant endosteal hyperostosis. Skeletal characteristics and review of the literature. J Bone Jt Surg Am ß3A: 1643–9.Google Scholar
  9. 9.
    Beighton P (1987) Pyle disease (metaphyseal dysplasia). J Med Genet 24: 321–4.PubMedCrossRefGoogle Scholar
  10. 10.
    Beighton P, Hamersma H, Raad M (1979) Oculodentoosseous dysplasia: heterogeneity or variable expression? Clin Genet 16: 169–77.PubMedCrossRefGoogle Scholar
  11. 11.
    Benichou 0, Cleiren E, Gram J, Bollerslev J, de Vernejoul MC, Van Hul W (2001) Mapping of autosomal dominant osteopetrosis type II (Albers-Schonberg disease) to chromosome 16p13.3. Am J Hum Genet 69: 647–54.PubMedCrossRefGoogle Scholar
  12. 12.
    Bloch W, Courtois G, Addicks K, Israel A, Rajewsky K, Pasparakis M, et al. (2000) NEMO/IKK gamma-deficient mice model incontinentia pigmenti. Mol Cell 5: 981–92.PubMedCrossRefGoogle Scholar
  13. 13.
    Blomstrand S, Claesson I, Save-Soderbergh J (1985) A case of lethal congenital dwarfism with accelerated skeletal maturation. Pediatr Radiol 15: 141–3.PubMedCrossRefGoogle Scholar
  14. 14.
    Bollerslev J (1989) Autosomal dominant osteopetrosis: bone metabolism and epidemiological, clinical, and hormonal aspects. Endocr Rev 10: 45–67.PubMedCrossRefGoogle Scholar
  15. 15.
    Bollerslev J, Andersen PE (1988) Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. Bone 9: 7–13.PubMedCrossRefGoogle Scholar
  16. 16.
    Bonewald LF (1996) Transforming growth factor-beta. In: Bilezikian JP, Raisz LG, Rodan GA (eds) Principles of Bone Biology. Academic Press, San Diego, pp 647–59.Google Scholar
  17. 17.
    Bonucci E, Menichini G, Scarfo GB, Tomaccini D (1977) Histologic, microradiographic and electron microscopic investigations of bone tissue in a case of craniodiaphyseal dysplasia. Virchows Arch A Pathol Anat Histo 373: 167–75.CrossRefGoogle Scholar
  18. 18.
    Boyden LM, Mao J, Belsky J, Mitzner L, Farhi A, Mitnick MA, et al. (2002) High bone density due to a mutation in LDL-receptor-related protein 5. N Engl J Med 346: 1513–21.PubMedCrossRefGoogle Scholar
  19. 19.
    Brady KP, Dushkin H, Fornzler D, Koike T, Magner F, Her H, et al. (1999) A novel putative transporter maps to the osteosclerosis (oc) mutation and is not expressed in the oc mutant mouse. Genomics 56: 254–61.PubMedCrossRefGoogle Scholar
  20. 20.
    Breton S (2001) The cellular physiology of carbonic anhydrases. Jop 2: 159–64.PubMedGoogle Scholar
  21. 21.
    Brunkow ME, Gardner JC, Van Ness J, Paeper BW, Kovacevich BR, Pro11 S, et al. (2001) Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. Am J Hum Genet 68: 577–89.PubMedCrossRefGoogle Scholar
  22. 22.
    Bucay N, Sarosi I, Dunstan CR, Morony S, Tarpley J, Capparelli C, et al. (1998) osteoprotegerin-deficient mice develop early onset osteoporosis and arterial calcification. Genes Dev 12: 1260–8.Google Scholar
  23. 23.
    Campos-Xavier B, Saraiva JM, Savarirayan R, Verloes A, Feingold J, Faivre L, et al. (2001) Phenotypic variability at the TGF-betal locus in Camurati-Engelmann disease. Hum Genet 109: 653–8.PubMedCrossRefGoogle Scholar
  24. 24.
    Chandler D, Tinschert S, Lohan K, Harrop K, Goldblatt J, Nagy M, et al. (2001) Refinement of the chromosome 5p locus for craniometaphyseal dysplasia. Hum Genet 108: 394–7.PubMedCrossRefGoogle Scholar
  25. 25.
    Charrow J, Poznanski AK, Unger FM, Robinow M (1991) Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: a newly recognized syndrome. Am J Med Genet 41: 464–8.PubMedCrossRefGoogle Scholar
  26. 26.
    Chorev M, Rosenblatt M (1996) Parathyroid hormone: Structure-function relations and analog design. In: Bilezikian JP, Raisz LG, Rodan GA (eds) Principles of Bone Biology. Academic Press, San Diego.Google Scholar
  27. 27.
    Cleiren E, Benichou O, Van Hul E, Gram J, Bollerslev J, Singer FR, et al. (2001) Albers-Schonberg disease (autosomal dominant osteopetrosis. type II) results from mutations in the C1CN7 chloride channel gene. Hum Mol Genet 10: 2861–7.PubMedCrossRefGoogle Scholar
  28. 28.
    Clementi M, Bellato S, Rossetti A, Mammi I, Tenconi R (1993) Is visual field reduction a component manifestation of osteopathia striata with cranial sclerosis? Am J Med Genet 46: 724–6.PubMedCrossRefGoogle Scholar
  29. 29.
    Diaz GA, Khan KT, Gelb BD (1998) The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42–q43. Genomics 54: 13–18.PubMedCrossRefGoogle Scholar
  30. 30.
    Dinarello CA, O’Neill LA (2000) The IL-1 receptor/tolllike receptor superfamily: crucial receptors for inflammation and host defense. Immunol Today 21: 206–9.PubMedCrossRefGoogle Scholar
  31. 31.
    Dipierri JE, Guzman JD (1984) A second family with autosomal dominant osteosclerosis - type Stanescu. Am J Med Genet 18: 13–8.PubMedCrossRefGoogle Scholar
  32. 32.
    Doffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, et al. (2001) X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet 27: 277–85.PubMedCrossRefGoogle Scholar
  33. 33.
    Dougall WC, Glaccum M, Charrier K, Rohrbach K, Brasel K, De Smedt T, et al. (1999) RANK is essential for osteoclast and lymph node development. Genes Dev 13: 2412–24.PubMedCrossRefGoogle Scholar
  34. 34.
    Fanconi S, Issler C, Giedion A, Prader A (1983) The SPONASTRIME dysplasia: familial short-limb dwarfism with saddle nose, spinal alterations and metaphyseal striation. Report of 4 siblings. Hell, Paediatr Acta; 38: 267–80.Google Scholar
  35. 35.
    Fara M, Gorlin RJ (1981) The question of hypertelorism in oculodentoosseous dysplasia. Am J Med Genet 10: 101–2.PubMedCrossRefGoogle Scholar
  36. 36.
    Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J, Monreal AW (1999) Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. [comment]. Nat Genet 22: 366–9.PubMedCrossRefGoogle Scholar
  37. 37.
    Ferrell RE, Lawrence EC, Kimak MA, Levinson KL, McTigue MA,Alitalo K, et al. (2000) Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema. Nat Genet 25: 153–9.PubMedCrossRefGoogle Scholar
  38. 38.
    Fischer A, Griscelli C, Blanche S, Le Deist F, Veber F, Lopez M, et al. (1986) Prevention of graft failure by an anti-HLFA-1 monoclonal antibody in HLA-mismatched bone-marrow transplantation. Lancet ii: 1058–61.Google Scholar
  39. 39.
    Franceschini P, Testa A, Bogetti G, Girardo E, Guala A, Lopez-Bell G, et al. (1992) Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant. Am J Med Genet 42: 112–16.PubMedCrossRefGoogle Scholar
  40. 40.
    Franzoso G, Carlson L, Xing L, Poljak L, Shores EW, Brown KD, et al. (1997) Requirement for NF-kappaB in osteoclast and B-cell development. Genes Dev 11: 3482–96.PubMedCrossRefGoogle Scholar
  41. 41.
    Frattini A, Orchard PJ, Sobacchi C, Giliani S, Abinun M, Mattsson JP, et al. (2000) Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet 25: 343–6.PubMedCrossRefGoogle Scholar
  42. 42.
    Fryns JP (1995) Melorheostosis and somatic mosaicism. Am J Med Genet 58: 199.PubMedCrossRefGoogle Scholar
  43. 43.
    Gelb BD, Edelson JG, Desnick RJ (1995) Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping. Nat Genet 10: 235–7.PubMedCrossRefGoogle Scholar
  44. 44.
    Gelb BD, Shi GP, Chapman HA, Desnick RJ (1996) Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science 273: 1236–8.PubMedCrossRefGoogle Scholar
  45. 45.
    Gelb BD, Spencer E, Obad S, Edelson GJ, Faure S, Weissenbach J, et al. (1996) Pycnodysostosis: refined linkage and radiation hybrid analyses reduce the critical region to 2 cM at 1q21 and map two candidate genes. Hum Genet 98: 141–4.PubMedCrossRefGoogle Scholar
  46. 46.
    Ghadami M, Makita Y, Yoshida K, Nishimura G, Fukushima Y, Wakui K, et al. (2000) Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1–q13.3. J Am J Hum Genet 66: 143–7.CrossRefGoogle Scholar
  47. 47.
    Ghosal SP, Mukherjee AK, Mukherjee D, Ghosh AK (1988) Diaphyseal dysplasia associated with anemia. J Pediatr 113: 49–57.PubMedCrossRefGoogle Scholar
  48. 48.
    Gladwin A, Donnai D, Metcalfe K, Schrander-Stumpel C, Brueton L, Verloes A, et al. (1997) Localization of a gene for oculodentodigital syndrome to human chromosome 6q22–q24. Hum Mol Genet 6: 123–7.PubMedCrossRefGoogle Scholar
  49. 49.
    Godfrey VL, Krahn-Senftleben G, Takahashi T, Roberts JL, Schwarz T, Feng L, et al. (2000) Female mice heterozygous for IKK gamma/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti. Mol Cell 5: 969–79.PubMedCrossRefGoogle Scholar
  50. 50.
    Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, et al. (2001) LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 107: 513–23.PubMedCrossRefGoogle Scholar
  51. 51.
    Gorlin RJ, Whitley CB (1983) Lenz-Majewski syndrome. Radiology 149: 129–31.PubMedGoogle Scholar
  52. 52.
    Gowen M, Lazner F, Dodds R, Kapadia R, Feild J, Tavaria M, et al. (1999) Cathepsin K knockout mice develop osteopetrosis due to a deficit in matrix degradation but not demineralization. J Bone Miner Res 14: 1654–63.PubMedCrossRefGoogle Scholar
  53. 53.
    Gumruk F, Besim A, Altay C (1993) Ghosal haematodiaphyseal dysplasia: a new disorder. Eur J Pediatr 152: 218–21.PubMedCrossRefGoogle Scholar
  54. 54.
    Gutmann DH, Zackai EH, McDonald McGinn DM, Fischbeck KH, Kamholz J (1991) Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter. Am J Med Genet 41: 18–20.PubMedCrossRefGoogle Scholar
  55. 55.
    Haila S, Socha J, Tomaszewski L, Saarialho-Kere U, Karjalainen-Lindsberg ML, Airola K, et al. (1996) X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.[comment]. Nat Genet 13: 409–16.CrossRefGoogle Scholar
  56. 56.
    Hall CM (2002) International Nosology and Classification of Constitutional Disorders of Bone (2001). Am J Med Genet 113: 65–77.PubMedCrossRefGoogle Scholar
  57. 57.
    Hardcastle P, Nade S, Arnold W (1986) Hereditary bone dysplasia with malignant change. Report of three families. J Bone Joint Surg Am; 68: 1079–89.Google Scholar
  58. 58.
    Hart TC, Bowden DW, Bolyard J, Kula K, Hall K, Wright JT (1997) Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21. Hum Mol Genet 6: 2279–84.PubMedCrossRefGoogle Scholar
  59. 59.
    Heaney C, Shalev H, Elbedour K, Carmi R, Staack JB, Sheffield VC, et al. (1998) Human autosomal recessive osteopetrosis maps to 11g13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation. Hum Mol Genet 7: 1407–10.PubMedCrossRefGoogle Scholar
  60. 60.
    Hecht JT, Blanton SH, Broussard S, Scott A, Rhoades Hall C, Milunsky JM (2001) Evidence for locus heterogeneity in the Camurati-Engelmann (DPD1) Syndrome. Clin Genet 59: 198–200.PubMedCrossRefGoogle Scholar
  61. 61.
    Ho AM, Johnson MD, Kingsley DM (2000) Role of the mouse ank gene in control of tissue calcification and arthritis. Science 289: 265–70.PubMedCrossRefGoogle Scholar
  62. 62.
    Horan FT, Beighton PH (1978) Osteopathia striata with cranial sclerosis. autosomal dominant entity Clin Genet 13: 201–6.Google Scholar
  63. 63.
    Hoshi K, Amizuka N, Kurokawa T, Nakamura K, Shiro R, Ozawa H (2001) Histopathological characterization of melorheostosis. Orthopedics 24: 273–7.PubMedGoogle Scholar
  64. 64.
    Hsu H, Lacey DL, Dunstan CR, Solovyev I, Colombero A, Timms E, et al. (1999) Tumor necrosis factor receptor family member RANK mediates osteoclast differentiation and activation induced by osteoprotegerin ligand. Proc Natl Acad Sci U S A 96: 3540–5.PubMedCrossRefGoogle Scholar
  65. 65.
    Israel A (2000) The IKK complex: an integrator of all signals that activate NF-kB? Trends Cell Biol 10: 129–33.PubMedCrossRefGoogle Scholar
  66. 66.
    Iughetti P, Alonso LG, Wilcox W, Alonso N, PassosBueno MR (2000) Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21–22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. Am J Med Genet 95: 482–91.PubMedCrossRefGoogle Scholar
  67. 67.
    Jobert AS, Zhang P, Couvineau A, Bonaventure J, Roume J, Le Merrer M, et al. (1998) Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. J Clin Invest 102: 34–40.PubMedCrossRefGoogle Scholar
  68. 68.
    Johnson MD, Hughes A, Gurley KA, Ho AM, Doherty M, Dixey J, et al. (2002) Mutations in ANKH cause chondrocalcinosis. Am J Hum Genet 71: 933–40.PubMedCrossRefGoogle Scholar
  69. 69.
    Johnson ML, Gong G, Kimberling W, Recker SM, Kimmel DB, Recker RB (1997) Linkage of a gene causing high bone mass to human chromosome 11 (11q12–13). Am J Hum Genet 60: 1326–32.PubMedCrossRefGoogle Scholar
  70. 70.
    Kan AE, Kozlowski K (1992) New distinct lethal osteosclerotic bone dysplasia ( Raine syndrome ). Am J Med Genet 43: 860–4.Google Scholar
  71. 71.
    Karin M, Ben-Neriah Y (2000) Phosphorylation meets ubiquitination: the control of NF-[kappa]B activity. Annu Rev Immunol 18: 621–63.PubMedCrossRefGoogle Scholar
  72. 72.
    Karsenty G (1999) The genetic transformation of bone biology. Genes Dev 13: 3037–51.PubMedCrossRefGoogle Scholar
  73. 73.
    Kato M, Patel MS, Levasseur R, Lobov I, Chang BH, Glass DA, et al. (2002) Cbfal-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor. J Cell Biol 157: 303–14.PubMedCrossRefGoogle Scholar
  74. 74.
    Key LL, Rodriguiz RM, Willi SM, Wright NM, Hatcher HC, Eyre DR, et al. (1995) Long-term treatment of osteopetrosis with recombinant human interferon gamma. N Engl J Med 332: 1594–9.PubMedCrossRefGoogle Scholar
  75. 75.
    Kim JE, Kim EH, Han EH, Park RW, Park IH, Jun SH, et al. (2000) A TGF-beta-inducible cell adhesion molecule, betaig-h3, is downregulated in melorheostosis and involved in osteogenesis. J Cell Biochem 77: 169–78.PubMedCrossRefGoogle Scholar
  76. 76.
    Kinoshita A, Saito T, Tornita H, Makita Y, Yoshida K, Ghadami M, et al. (2000) Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. Nat Genet 26: 19–20.PubMedCrossRefGoogle Scholar
  77. 77.
    Kornak U, Kasper D, Bosl MR, Kaiser E, Schweizer M, Schulz A, et al. (2001) Loss of the C1C-7 chloride channel leads to osteopetrosis in mice and man. Cell 104: 205–15.PubMedCrossRefGoogle Scholar
  78. 78.
    Laitala T, Vaananen HK (1994) Inhibition of bone resorption in vitro by antisense RNA and DNA molecules targeted against carbonic anhydrase II or two subunits of vacuolar H(+)-ATPase. J Clin Invest 93: 2311–18.PubMedCrossRefGoogle Scholar
  79. 79.
    Langer LO, Beals RK, LaFranchi S, Scott CI, Sockalosky JJ (1996) Sponastrime dysplasia: five new cases and review of nine previously published cases. Am J Med Genet 63: 20–7.PubMedCrossRefGoogle Scholar
  80. 80.
    Lanske B, Karaplis AC, Lee K, Luz A, Vortkamp A, Pirro A, et al. (1996) PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth. Science 273: 663–6.PubMedCrossRefGoogle Scholar
  81. 81.
    Lenz WD, Majewski F (1974) A generalized disorders of the connective tissues with progeria, choanal atresia, symphalangism, hypoplasia of dentine and craniodiaphyseal hypostosis. Birth Defects Orig Artic Ser 10: 133–6.PubMedGoogle Scholar
  82. 82.
    Li YP, Chen W, Liang Y, Li E, Stashenko P (1999) Atp6ideficient mice exhibit severe osteopetrosis due to loss of osteoblast-mediated extracellular acidification. Nat Genet 23: 447–51.PubMedCrossRefGoogle Scholar
  83. 83.
    Lichtenstein J, Warson R, Jorgenson R, Dorst JP, McKusick VA (1972) The tricho-dento-osseous ( TDO) syndrome. Am J Hum Genet 24: 569–82.Google Scholar
  84. 84.
    Little RD, Carulli JP, Mastro RG Del, Dupuis J, Osborne M, Folz C, et al. (2002) A mutation in the LDL receptor- related protein 5 gene results in the autosomal domi- nant high-bone-mass trait. Am J Hum Genet 70: 11–19.PubMedCrossRefGoogle Scholar
  85. 85.
    Loshkajian A, Roume J, Stanescu V, Delezoide AL, Stampf F, Maroteaux P (1997) Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation. Am J Med Genet 71: 283 - 8.PubMedCrossRefGoogle Scholar
  86. 86.
    Macpherson RI (1974) Craniodiaphyseal dysplasia, a disease or group of diseases? J Can Assoc Radiol 25: 22–33.PubMedGoogle Scholar
  87. 87.
    Makita Y, Nishimura G, Ikegawa S, Ishii T, Ito Y, Okuno A (2000) Intrafamilial phenotypic variability in Engelmann disease (ED): are ED and Ribbing disease the same entity? Am J Med Genet 91: 153–6.PubMedCrossRefGoogle Scholar
  88. 88.
    Marks SC, Hermey DC (1996) The structure and development of bone. In: Bilezikian JP, Raisz LG, Rodan GA (eds) Principles of Bone Biology. Academic Press, San Diego, pp 3–14.Google Scholar
  89. 89.
    Marks SC, Seifert MF, Lane PW (1985) Osteosclerosis, a recessive skeletal mutation on chromosome 19 in the mouse. J Hered 76: 171–6.PubMedGoogle Scholar
  90. 90.
    Martignetti JA, Desnick RJ, Aliprandis E, Norton KI, Hardcastle P, Nade S, et al. (1999) Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21–22. Am J Hum Genet 64: 801–7.PubMedCrossRefGoogle Scholar
  91. 91.
    Martignetti JA, Gelb BD, Pierce H, Picci P, Desnick RJ (2000) Malignant fibrous histiocytoma: inherited and sporadic forms have loss of heterozygosity at chromosome bands 9p21–22-evidence for a common genetic defect. Genes Chrom Cancer 27: 191–5.PubMedCrossRefGoogle Scholar
  92. 92.
    Martin N, Jaubert J, Gounon P, Salido E, Haase G, Szatanik M, et al. (2002) A missense mutation in Tbce causes progressive motor neuronopathy in mice. Nat Genet 32: 443–7.PubMedCrossRefGoogle Scholar
  93. 93.
    Maximilan C, Dumitriu L, Ionitiu D, Ispas I, Firu P, Ciovirnache M, et al. (1981) Syndrome de dysostose cranio-faciale avec hyperplasie dyaphysaire. J. Genet. Hum. 29: 129–139.Google Scholar
  94. 94.
    See also on line: Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM numbers 166705 and 155950. World Wide Web URL: http://www.ncbì Scholar
  95. 95.
    McLean W, Olsen BR (2001) Mouse models of abnormal skeletal development and homeostasis. Trends Genet 17: 38–43.CrossRefGoogle Scholar
  96. 96.
    Mundlos S, Olsen BR (1997) Heritable diseases of the skeleton. Part I: Molecular insights into skeletal development-transcription factors and signaling pathways. FASEB J 11: 125–32.Google Scholar
  97. 97.
    Nager GT, Stein SA, Dorst JP, Holliday MJ, Kennedy DW, Diehn KW, et al. (1983) Sclerosteosis involving the temporal bone: clinical and radiologic aspects. Am J Otolaryngol 4: 1–17.PubMedCrossRefGoogle Scholar
  98. 98.
    Norton KI, Wagreich JM, Granowetter L, Martignetti JA (1996) Diaphyseal medullary stenosis (sclerosis) with bone malignancy (malignant fibrous histiocytoma): Hardcastle syndrome. Pediatr Radiol 26: 675–7.Google Scholar
  99. 99.
    Nurnberg P, Thiele H, Chandler D, Hohne W, Cunningham ML, Ritter H, et al. (2001) Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. Nat Genet 28: 37–41.PubMedGoogle Scholar
  100. 100.
    Nurnberg P, Tinschert S, Mrug M, Hampe J, Muller CR, Fuhrmann E, et al. (1997) The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene. Am J Hum Genet 61: 918–23.PubMedCrossRefGoogle Scholar
  101. 101.
    Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, et al. (2002) Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet 32: 448–52.PubMedCrossRefGoogle Scholar
  102. 102.
    Patton MA, Laurence KM (1985) Three new cases of oculodentodigital (ODD) syndrome: development of the facial phenotype. J Med Genet 22: 386–9.PubMedCrossRefGoogle Scholar
  103. 103.
    Pellegrino JE, McDonald McGinn DM, Schneider A, Markowitz RI, Zackai EH (1997) Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: an X-linked disorder? Am J Med Genet 70: 159–65.PubMedCrossRefGoogle Scholar
  104. 104.
    Price JA, Wright JT, Kula K, Bowden DW, Hart TC (1998) A common DLX3 gene mutation is responsible for tricho-dento-osseous syndrome in Virginia and North Carolina families. J Med Genet 35: 825–8.PubMedCrossRefGoogle Scholar
  105. 105.
    Price JA, Wright JT, Walker SJ, Crawford PJ, Aldred MJ, Hart TC (1999) Tricho-dento-osseous syndrome and amelogenesis imperfecta with taurodontism are genetically distinct conditions. Clin Genet; 56: 35–40.PubMedCrossRefGoogle Scholar
  106. 106.
    Raine J, Winter RM, Davey A, Tucker SM (1989) Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis. J Med Genet 26: 786–8.PubMedCrossRefGoogle Scholar
  107. 107.
    Reardon W, Hall CM, Dillon MJ, Baraitser M (1991) Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome? J Med Genet 28: 622–6.PubMedCrossRefGoogle Scholar
  108. 108.
    Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, et al. (2001) Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet 68: 1321–6.PubMedCrossRefGoogle Scholar
  109. 109.
    Robinson GW, Mahon KA (1994) Differential and overlapping expression domains of Dlx-2 and Dlx-3 suggest distinct roles for Distal-less homeobox genes in cranio-facial development. Mech Dev 48: 199–215.PubMedCrossRefGoogle Scholar
  110. 110.
    Roger D, Bonnetblanc JM, Leroux-Robert C (1994) Melorheostosis with associated minimal change nephrotic syndrome, mesenteric fibromatosis and capillary haemangiomas. Dermatology 188: 166–8.PubMedCrossRefGoogle Scholar
  111. 111.
    Rothwarf DM, Zand E, Natoli G, Karin M (1998) IKKgamma is an essential regulatory subunit of the IkappaB kinase complex. Nature 395: 297–300.PubMedCrossRefGoogle Scholar
  112. 112.
    Sabry MA, Zaki M, Abul Hassan SJ, Ramadan DG, Abdel Rasool MA, al Awadi SA, et al. (1998) Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. J Med Genet 35: 31–6.PubMedCrossRefGoogle Scholar
  113. 113.
    Shapiro SD, Quattromani FL, Jorgenson RJ, Young RS (1983) Tricho-dento-osseous syndrome: heterogeneity or clinical variability. Am J Med Genet 16: 225–36.PubMedCrossRefGoogle Scholar
  114. 114.
    Sly WS, Hewett-Emmett D, Whyte MP, Yu YS, Tashian RE (1983) Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. Proc Natl Acad Sci U S A 80: 2752–6.PubMedCrossRefGoogle Scholar
  115. 115.
    Smahi A, Courtois G, Vabres P, Yamaoka S, Heuertz S, Munnich A, et al. (2000) Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti ( IP) Consortium. Nature 405: 466–72.Google Scholar
  116. 116.
    Spranger J, Albrecht C, Rohwedder HJ, Wiedemann HR (1968) [Dysosteosclerosis - a special form of generalized osteosclerosis]. Fortschr Geb Rontgenstr Nuklearmed 109: 504–12.Google Scholar
  117. 117.
    Spranger J, Maroteaux P (1990) The lethal osteochondrodysplasias. Adv Hum Genet 331: 1–03.Google Scholar
  118. 118.
    Staehling-Hampton K, Proll S, Paeper BW, Zhao L, Charmley P, Brown A, et al. (2002) A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12–q21 is associated with van Buchem disease in the Dutch population. Am J Med Genet 110: 144–52.PubMedCrossRefGoogle Scholar
  119. 119.
    Stanescu V, Maximilian C, Poenaru S, Florea I, Stanescu R, Ionesco V, et al. (1963) Syndrome hereditaire dominant, reunissant une dysostose cranio-faciale de type particulier, une insuffisance de croissance d’aspect chondrodystrophique et un epaississement massif de la corticale des os longs. Rev Franc Endocr Clin 4: 219–31.Google Scholar
  120. 120.
    Steingrimsson E, Tessarollo L, Pathak B, Hou L, Arnheiter H, Copeland NG, et al. (2002) Mitf and Tfe3, two members of the Mitf-Tfe family of bHLH-Zip transcription factors, have important but functionally redundant roles in osteoclast development. Proc Natl Acad Sci U S A 99: 4477–82.PubMedCrossRefGoogle Scholar
  121. 121.
    Strisciuglio P, Hu PY, Lim EJ, Ciccolella J, Sly WS (1998) Clinical and molecular heterogeneity in carbonic anhydrase II deficiency and prenatal diagnosis in an Italian family. J Pediatr 132: 717–20.PubMedCrossRefGoogle Scholar
  122. 122.
    Superti-Furga A, Bonafe L, Rimoin DL (2001) Molecular-pathogenetic classification of genetic disorders of the skeleton. Am J Med Genet 106: 282–93.PubMedCrossRefGoogle Scholar
  123. 123.
    Tahseen K, Khan S, Una R, Usha R, Al Ghanem MM, Al Awadi SA, et al. (1997) Kenny-Caffey syndrome in six Bedouin sibships: autosomal recessive inheritance is confirmed. Am J Med Genet 69: 126–32.PubMedCrossRefGoogle Scholar
  124. 124.
    Traboulsi EI, Faris BM, Der Kaloustian VM (1986) Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia. Am J Med Genet 24: 95–100.PubMedCrossRefGoogle Scholar
  125. 125.
    Van Hul E, Gram J, Bollerslev J, Van Wesenbeeck L, Mathysen D, Andersen PE, et al. (2002) Localization of the gene causing autosomal dominant osteopetrosis type Ito chromosome 11q12–13. J Bone Miner Res 17: 1111–17.PubMedCrossRefGoogle Scholar
  126. 126.
    Van Hul W, Balemans W, Van Hul E, Dikkers FG, Obee H, Stokroos RJ, et al. (1998) Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17g12–q21. Am J Hum Genet 62: 391–9.PubMedCrossRefGoogle Scholar
  127. 127.
    Van Hul W, Bollerslev J, Gram J, Van Hul E, Wuyts W, Benichou 0, et al. (1997) Localization of a gene for autosomal dominant osteopetrosis (Albers-Schonberg disease) to chromosome 1p21.Am J Hum Genet 61: 363–9.Google Scholar
  128. 128.
    Verbes A, Misson JP, Dubru JM, Jamblin P, Le Merrer M (1995) Heterogeneity of SPONASTRIME dysplasia: delineation of a variant form with severe mental retardation. Clin Dysmorphol 4: 208–15.Google Scholar
  129. 129.
    Viot G, Lacombe D, David A, Mathieu M, de Broca A, Faivre L, et al. (2002) Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. Am J Med Genet 107: 1–4.PubMedCrossRefGoogle Scholar
  130. 130.
    Vortkamp A, Lee K, Lanske B, Segre GV, Kronenberg HM, Tabin CJ (1996) Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein. Science 273: 613–22.PubMedCrossRefGoogle Scholar
  131. 131.
    Weilbaecher KN, Motyckova G, Huber WE, Takemoto CM, Hemesath TJ, Xu Y, et al. (2001) Linkage of M-CSF signaling to Mitf, TFE3, and the osteoclast defect in Mitf(mi/mi) mice. Mol Cell 8: 749–58.PubMedCrossRefGoogle Scholar
  132. 132.
    White KE, Koller DL, Takacs I, Buckwalter KA, Foroud T, Econs MJ (1999) Locus heterogeneity of autosomal dominant osteopetrosis ( ADO ). J Clin Endocrinol Metab 84: 1047–51.Google Scholar
  133. 133.
    Whyte MP, Fallon MD, Murphy WA, Teitelbaum SL (1981) Axial osteomalacia. Clinical, laboratory and genetic investigation of an affected mother and son. Am J Med 71: 1041–9.Google Scholar
  134. 134.
    Whyte MP, Murphy WA, Fallon MD, Sly WS, Teitelbaum SL, McAlister WH,Avioli LV (1980) Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters. Am J Med 69: 64–74.Google Scholar
  135. 135.
    Whyte MP, Obrecht SE, Finnegan PM, Jones JL, Podgornik MN, McAlister WH, et al. (2002) Osteoprotegerin deficiency and juvenile Paget’s disease. N Engl J Med 347: 175–84.PubMedCrossRefGoogle Scholar
  136. 136.
    Wilson CJ, Vellodi A (2000) Autosomal recessive osteopetrosis: diagnosis, management, and outcome. Arch Dis Child 83: 449–52.PubMedCrossRefGoogle Scholar
  137. 137.
    Winter RM, Crawfurd Md A, Meire HB, Mitchell N (1980) Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases. Clin Genet 18: 462–74.Google Scholar
  138. 138.
    Yamaoka S, Courtois G, Bessia C, Whiteside ST, Weil R, Agou F, et al. (1998) Complementation cloning of NEMO. a component IkappaB kinase complex Essent NF kappaB activation. Cell 93: 1231–40.PubMedCrossRefGoogle Scholar
  139. 139.
    Yang S, Madyastha P, Bingel S, Ries W, Key L (2001) A new superoxide-generating oxidase in murine osteoclasts. J Biol Chem 276: 5452–8.PubMedCrossRefGoogle Scholar
  140. 140.
    Yeh WC, Wakeham A, Rudolph B, Nallainathan D, Potter J, Elia AJ, et al. (2000) Severe liver degeneration and lack of NF-kappaB activation in NEMO/IKKgamma-deficient mice. Genes Dev 14: 854–62.PubMedGoogle Scholar
  141. 141.
    Zhang Y, Timms A, Bonavita G, Caeiro F, Broxholme J, Cuthbertson J, et al. (2002) Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. Am J Hum Genet 71: 985–91.PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag London 2004

Authors and Affiliations

  • William McLean
  • Bjorn R. Olsen

There are no affiliations available

Personalised recommendations