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Angeborene sklerosierende und hyperostotische Skelettveränderungen

  • Jürgen Freyschmidt

Zusammenfassung

In der Pariser Nomenklatur werden sklerosierende Skelettdysplasien unter dem Subtitel „Abnormalities of density of cortical diaphyseal structure or metaphyseal modelling or both“ zusammengefaßt (Maroteaux 1970). Nach der 1977 überarbeiteten Version gehören folgende Krankheitsbilder dazu:
  • Osteopetrose mit früher Manifestation

  • Osteopetrose mit verzögerter Manifestation

  • Pyknodysostose

  • Osteopoikilie

  • Osteopathia striata

  • Melorheostose

  • diaphysäre Dysplasie (Camurati-Engelmann)

  • kraniodiaphysäre Dysplasie

  • endostale Hyperostose

  • autosomal-dominant, Typ Worth

  • autosomal-rezessiv, Typ van Buchem

  • tubuläre Sklerose (Kenny-Caffey)

  • Pachydermoperiostose

  • Osteodysplastie (Melnick-Needles)

  • frontometaphysäre Dysplasie

  • kraniometaphysäre Dysplasie

  • metaphysäre Dysplasie (Pyle)

  • Sklerosteose

  • Dysosteosklerose

  • Osteoektasie mit Hyperphosphatasie (familiäre Hyperphosphatasämie, juveniler M. Paget1)

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Literatur

  1. Andersen PE, Bollerslev J (1987) Heterogeneity of autosomal dominant osteopetrosis. Radiology 164: 223PubMedGoogle Scholar
  2. Arany L, Tamami M, Kollar J (1988) Pyknodysostosis:presentation of a new case. ROFO 149: 442Google Scholar
  3. Beighton P, Cremin BJ (1980) Sclerosing bone dysplasias.Springer, Berlin Heidelberg New YorkGoogle Scholar
  4. Beighton P, Cremin BJ, Hamersma H (1976) The radiology of sclerosteosis. Br J Radiol 49: 934PubMedCrossRefGoogle Scholar
  5. Buchem FSP van (1971) Hyperostosis corticalis generalisata.Eight new cases. Acta Med Scand 189: 257Google Scholar
  6. Campbell CJ, Papademetriou T, Bonfiglio M (1968) Melorheostosis.A report of clinical roentgenographic and pathological findings in fourteen cases. J Bone Joint Surg [Am] 50: 1281Google Scholar
  7. Claus HG (1964) Gibt es eine streifige Form der Osteopoikilie? ROFO 101: 522Google Scholar
  8. Garver P, Resnick D, Haghighi P et al. (1982) Melorheostosis of the axial skeleton with associated fibrolipomatous lesions. Skeletal Radiol 9: 41PubMedCrossRefGoogle Scholar
  9. Gehweiler J, Bland W, Carden TS et al. (1973) Osteopathia striata- Voorhoeve’s disease. Review of the roentgen manifestations. AJR 118: 450Google Scholar
  10. Gelman MI (1977) Autosomal dominant osteosclerosis.Radiology 125: 289Google Scholar
  11. Goltz RW, Henderson RR, Hitch JH et al. (1970) Focal dermal hypoplasia syndrome. Arch Dermatol 101: IGoogle Scholar
  12. Graham CB, Rudhe R, EklOfP (1973) Osteopetrosis. In:Kaufmann HJ (ed) Intrinsic diseases of bones. Karger,Basel S 375 (Prog Pediat Radiol Vol 4)Google Scholar
  13. Greenspan A, Steiner G, Sotelo D et al. (1986) Mixed sclerosing bone dysplasia coexisting with dysplasia epiphysealis hemimelica (Trevor-Fairbank disease).Skeletal Radiol 15: 452PubMedGoogle Scholar
  14. Heselson NG, Raad MS, Hamersma H et al. (1979) The radiological manifestations of metaphyseal dysplasia ( Pyle’s disease ). Br J Radiol 52: 431Google Scholar
  15. Horton WA, Schimke RN, Iyama T (1980) Osteopetrosis:further heterogeneity. J Pediatr 97: 580PubMedCrossRefGoogle Scholar
  16. Irie T, Takahashi M, Kaneko M (1989) Case report 546 (Endosteal hyperostosis, Worth type ). Skeletal Radiol 18: 310Google Scholar
  17. Jaffe HL (1972) Metabolic, degenerative and inflammatory diseases of bones and joints. Urban & Schwarzenberg,Miinchen, p 226Google Scholar
  18. Kaftori JK, Kleinhaus U, Naveh Y (1987) Progressive diaphyseal dysplasia (Camurati-Engelmann): radiographic follow-up and CT findings. Radiology 164: 777PubMedGoogle Scholar
  19. Kaibara N, Katsuki I, Hotokebuchi T et al. (1982) Intermediate form of osteopetrosis with recessive inheritance.Skeletal Radiol 9: 47Google Scholar
  20. Khurana JS, Ehara SH, Rosenberg AE (1988) Case report 510 ( Melorheostosis of ilium, femur, and adjacent soft tissues ). Skeletal Radiol 17: 539Google Scholar
  21. Knockaert D, Dequeker J (1979) Osteopathia striata and focal dermal hypoplasia. Skeletal Radiol 4: 223PubMedCrossRefGoogle Scholar
  22. Krook L, Whalen JP, Dorman HD et al. (1981) Osteopetrosis:an interpretation of its pathogenesis. Skeletal Radiol 7: 185PubMedCrossRefGoogle Scholar
  23. Lagier R, Mbakop A, Bigler A (1984) Osteopoikilosis:a radiological and pathological study. Skeletal Radiol II: 161Google Scholar
  24. Larregue M, Michel Y, Maroteaux J et al. (1973)Google Scholar
  25. L’osteopathie striee et dysmorphies squelettiques associees dans l’hypoplasie dermique en aires. Revue Rhum Mal Osteoartic 6: 415Google Scholar
  26. Maroteaux P, Lamy M (1965) The malady of ToulouseLautrec. JAMA 191: 715Google Scholar
  27. Maroteaux P (1970) Nomenclature internationale des maladies osseuses constitutionelles. Ann Radiol (Paris) 13: 455Google Scholar
  28. Melnick JC, Needles CT (1966) An undiagnosed bone dysplasia: a 2-family study of 4 generations and 3 generations. AJR 97: 39Google Scholar
  29. Morris JM, Samilson RL, Corley CL (1963) Melorheostosis.Google Scholar
  30. Review of the literature and report of an interesting case with a nineteen-year follow-up. J Bone Joint Surg [Am] 45: 1191Google Scholar
  31. Murray RO, McCredie J (1979) Melorheostosis and the sclerotomes: a radiological correlation. Skeletal Radiol 4: 57PubMedCrossRefGoogle Scholar
  32. Naveh Y, Alon U, Kaftori JK et al. (1985) Progressive diaphyseal dysplasia: evaluation of corticosteroid therapy. Pediatrics 75: 321PubMedGoogle Scholar
  33. Raby N, Vivian G (1988) Case report 478 (Melorheostosis of the axial skeleton with associated intrathecal lipoma). Skeleial Radio117: 216Google Scholar
  34. Resnick D, Niwayama G (eds) (1981) Diagnosis of bone and joint disorders. Saunders, Philadelphia, p 2731 Schnyder PA (1980) Osseous changes of osteopathia striata associated with cranial sclerosis. Skeletal Radiol5: 19Google Scholar
  35. Spranger J, Albrecht C, Rohwedder HJ et al. (1968) Die Dysosteosklerose: eine Sonderform der generalisiertenGoogle Scholar
  36. Osteosklerose. ROFO 109: 504Google Scholar
  37. Tucker AS, Klein L, Antony GJ (1976) Craniodiaphyseal dysplasia: Evolution over a five-year period. Skeletal Radiol 1: 47Google Scholar
  38. Walker GF (1964) Mixed sclerosing bone dystrophies.Two case reports. J Bone Joint Surg [Br] 46: 546Google Scholar
  39. Wendler H, Kellerer K (1975) Osteodysplasie Syndrom ( Melnick-Needles ). R6FO 122: 309Google Scholar
  40. Worth HM, Wollin DG (1966) Hyperostosis corticalis generalisata congenita. J Can Assoc Radio1 17: 67Google Scholar
  41. Whyte MP, Murphy WA, Fallon MD et al. (1981) Mixed-sclerosing-bone-dystrophy: report of a case and review of the literature. Skeletal Radiol 6: 95PubMedCrossRefGoogle Scholar
  42. Bessler W, Egloff B, Sulser H (1984) Gardner Syndrome with aggressive fibromatosis (case report 253). Skeletal Radiol 11: 56Google Scholar
  43. Friedel W, Möslein G, Jaeger K et al. (1991) Familiäre adenomatöse Polyposis. Dtsch Ärztebl 88/15:B-851Google Scholar
  44. Harned RK, Buck JL, Olmsted WW et al. (1991) Extra-colonic manifestations of the familial adenomatous polyposis syndromes. AJR 156: 481PubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1993

Authors and Affiliations

  • Jürgen Freyschmidt
    • 1
  1. 1.Radiologische KlinikZentralkrankenhaus St. Jürgen-StraßeBremenDeutschland

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