Hereditäre Erkrankungen

  • Fritz Hefti


Unter dem Begriff »Systemerkrankungen« werden Krankheiten subsumiert, die nicht auf eine Körperregion oder ein einzelnes Organ beschränkt sind, sondern ein ganzes Organsystem betreffen. In der Kinderorthopädie interessieren natürlich vor allem jene Krankheiten, bei denen der Bewegungsapparat (mit-)betroffen ist.


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  1. 1.
    Brinkmann G (1992) Psychologische Aspekte des Kleinwuchses. In: Enderle A, Meyerhöfer D, Unverfehrt G (Hrsg.) Kleine Menschen – große Kunst. Hamm: Artcolor, pp. 26–32Google Scholar
  2. 2.
    Enderle A (1992) Medizingeschichtliche Aspekte des Kleinwuchses. In: Enderle A, Meyerhöfer D, Unverfehrt G (Hrsg.) Kleine Menschen – große Kunst. Hamm: Artcolor, pp. 33–43Google Scholar
  3. 3.
    Frenzel E (1992) Motive der Weltliteratur: Bettler. Stuttgart: Kröner, pp. 50–64Google Scholar
  4. 4.
    Schumacher A (1981) Zur Bedeutung der Körperhöhe in der menschlichen Gesellschaft. Z Morphol Anthrop 72: 233–45Google Scholar
  5. 5.
    Superti-Furga A, Bonafé L, Rimoin DL (2001) Molecularpathogenetic classification of genetic disorders of the skeleton. Am J Med Genet 106: 282–93PubMedGoogle Scholar
  6. 6.
    Wynne-Davies R, Gormley J (1985) The prevalence of skeletal dysplasias. J Bone Joint Surg 67-B: 133–37Google Scholar
  7. 7.
    Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier, G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A (2011). Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet Part A 155: 943–68PubMedCentralGoogle Scholar
  8. 1.
    Ahn N, Ahn U, Nallamshetty L, Rose P, Buchowski J, Garrett E, Kebaish K, Sponseller P (2001) The lumbar interpediculate distance is widened in adults with the Marfan syndrome: data from 32 cases. Acta Orthop Scand 72: 67–71PubMedGoogle Scholar
  9. 2.
    Albers-Schönberg H (1904) Röntgenbilder einer seltenen Knochenerkrankung. Münch Med Wochenschr 51: 36–5Google Scholar
  10. 3.
    Allam KA, Wan DC, Khwanngern K, Kawamoto HK, Tanna N, Perry A, Bradley JP (2011) Treatment of apert syndrome: a long-term follow-up study. Plast Reconstr Surg 127: 1601–11PubMedGoogle Scholar
  11. 4.
    Amary MF, Damato S, Halai D, Eskandarpour M, Berisha F, Bonar F, McCarthy S, Fantin VR, Straley KS, Lobo S, Aston W, Green CL, Gale RE, Tirabosco R, Futreal A, Campbell P, Presneau N, Flanagan AM (2012) Ollier disease and Maffucci syndro me are caused by somatic mosaic mutations of IDH1 and IDH2. Nat Genet 43: 1262–5Google Scholar
  12. 5.
    Baca KE, Abdullah MA, Ting BL, Schkrohowsky JG, Hoernschemeyer DG, Carson BS, Ain MC (2010) Surgical decompress ion for lumbar stenosis in pediatric achondroplasia. J Pediatr Orthop 30: 449–54PubMedGoogle Scholar
  13. 6.
    Bargman R, Posham R, Boskey AL, Di CE, Raggio C, Pleshko N (2012) Comparable outcomes in fracture reduction and bone properties with RANKL inhibition and alendronate treatment in a mouse model of osteogenesis imperfecta. Osteoporos Int 23: 1141–50PubMedCentralPubMedGoogle Scholar
  14. 7.
    Billings PC, Fiori JL, Bentwood JL, O’Connell MP, Jiao X, Nussbaum B, Caron RJ, Shore EM, Kaplan FS (2008) Dysregulated BMP signaling and enhanced osteogenic differentiation of connective tissue progenitor cells from patients with fibrodysplasia ossificans progressiva (FOP). J Bone Miner Res 23: 305–13PubMedCentralPubMedGoogle Scholar
  15. 8.
    Binder G, Fritsch H, Schweizer R, Ranke M (2001) Radiological signs of Leri-Weill dyschondrosteosis in Turner syndrome. Horm Res 55: 71–6PubMedGoogle Scholar
  16. 9.
    Birke O, Davies N, Latimer M, Little DG, Bellemore M (2011) Experience with the Fassier-Duval telescopic rod: first 24 c onsecutive cases with a minimum of 1-year follow-up. J Pediatr Orthop 31: 458–64PubMedGoogle Scholar
  17. 10.
    Bishop N, Harrison R, Ahmed F, Shaw N, Eastell R, Campbell M, Knowles E, Hill C, Hall C, Chapman S, Sprigg A, Rigby A (2010) A randomized, controlled dose-ranging study of risedronate in children with moderate and severe osteogenesis imperfecta. J Bone Miner Res 25: 32–40PubMedGoogle Scholar
  18. 11.
    Black B, Dooley J, Pyper A, Reed M (1993) Multiple hereditary exostoses. An epidemiologic study of an isolated community in Manitoba. Clin Orthop 287: 212–7PubMedGoogle Scholar
  19. 12.
    Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafe L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovee JV, Pansuriya TC, de SSB, Savarirayan R, Andreucci E, Vikkula M, Garavelli L, Pottinger C, Ogino T, Sakai A, Regazzoni BM, Wuyts W, Sangiorgi L, Pedrini E, Zhu M, Kozakewich HP, Kasser JR, Seidman JG, Kurek KC, Warman ML (2011) Loss-of-function mutations in PTPN11 cause metacho ndromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet 7: e100205–0Google Scholar
  20. 13.
    Campbell RM (2009) Sp ine deformities in rare congenital syndromes: clinical issues. Spine 34: 1815–27PubMedGoogle Scholar
  21. 14.
    Chlebna-Sokol D, Loba-Jakubowska E, Sikora A (2001) Clinical evaluation of patients with idiopathic juvenile osteoporosis. J Pediatr Orthop B 10: 259–63PubMedGoogle Scholar
  22. 15.
    Chong B, Hegde M, Fawkner M, Simonet S, Cassinelli H, Coker M, Kanis J, Seidel J, Tau C, Tuysuz B, Yuksel B, Love D (2003) Idiopathic hyperphosphatasia and TNFRSF11B mutati ons: relationships between phenotype and genotype. J Bone Miner Res 18: 2095–104PubMedGoogle Scholar
  23. 16.
    Chowdhry M, Hughes C, Grimer RJ, Sumathi V, Wilson S, Jeys L (2009) Bone sarcomas ar ising in patients with neurofibromatosis type 1. J Bone Joint Surg Br 91: 1223–6PubMedGoogle Scholar
  24. 17.
    Corrado R, Wilson AF, Tello C, Noel M, Galaretto E, Bersusky E (2011) Sotos syndrome and scoliosis surgical treatment: a 10-year follow-up. Eur Spine J 20 (Suppl 2): S271–7PubMedGoogle Scholar
  25. 18.
    Couchouron T, Masson C (2011) Early-onset progressive osteoarthritis with here ditary progressive ophtalmopathy or Stickler syndrome. Joint Bone Spine 78: 45–9PubMedGoogle Scholar
  26. 19.
    Craw ford AH, Schorry EK (2006) Neurofibromatosis update. J Pediatr Orthop 26: 413–23Google Scholar
  27. 20.
    Crawford AH, Herrera-Soto J (2007) Scoliosis associated with neurofibromatosis. Orthop Clin North Am 38: 553–62Google Scholar
  28. 21.
    C undy T (2002) Idiopathic hyperphosphatasia. Semin Musculoskelet Radiol 6: 307–12Google Scholar
  29. 22.
    Cundy T, Wheadon L, King A (2004) Treatment of idiopathic hyperphosphatasia with intensive bisphosphonate therapy. J Bone Miner Res 19: 703–11PubMedGoogle Scholar
  30. 23.
    Daly K, Wisbeach A, Sanpera I, Fixsen JA (1996) The prognosis for walking in osteogenesis imperfecta. J Bone Joint Surg 78-B: 477–80Google Scholar
  31. 24.
    Dawson P, Kelly T, Marini J (1999) Extension of phenotype associated with structural mutations in type I collagen: siblings with juvenile osteoporosis have an alpha2(I)Gly436-Arg substitution. J Bone Miner Res 14: 449–55PubMedGoogle Scholar
  32. 25.
    De la Rocha A, Birch JG, Schiller JR (2012) Precocious appearance of the capital femoral ossific nucleus in Larsen syndrome. J Bone Joint Surg Am 94: pe5–5Google Scholar
  33. 26.
    Egner-Hobarth S, Welkerling H, Windhager R (2007) Bisphosphonate in der Therapie der fibrösen Dysplasie. Relevante Daten und praktische Aspekte. Orthopäde 36: 12–4Google Scholar
  34. 27.
    Emerson S, Kaplan F (2001) Answer: Marrow stem cell transplantation in fibrodysplasia ossificans progressiva. Clin Orthop 392: 451–5PubMedGoogle Scholar
  35. 28.
    Fai rbank HAT (1935) Generalized diseases of the skeleton. Proc R Soc Med 28: 611–23Google Scholar
  36. 29.
    Fanburg JC, Meis-Kindblom JM, Rosenberg AE (1995) Multiple enchondromas associated with spindle-cell hemangioendotheli omas. An overlooked variant of Maffucci's syndrome. Am J Surg Pathol 19: 1029–38PubMedGoogle Scholar
  37. 30.
    Feldman DS, Jordan C, Fonseca L (2010) Orthopae dic manifestations of neurofibromatosis type 1. J Am Acad Orthop Surg 18: 346–57PubMedGoogle Scholar
  38. 31.
    Felix NA, Mazur JM, Loveless EA (2000) Acetabular dysplasia associated with hereditary multiple exostoses. A case report. J Bone Joint Surg Br 82(4): 555–7PubMedGoogle Scholar
  39. 32.
    Fernandes GC, Dos Santos Torres U, Funes E, de Toledo RA (2011) Nail-patella syndrome. J Clin Rheumatol 17 (7): 40–2Google Scholar
  40. 33.
    Freisinger P (2004) Typ- II-Kollagenopathien – klinisches und genetisches Spektrum. Med Genetik 16: 17–22Google Scholar
  41. 34.
    Fukuda A, Kato K, Hasegawa M, Nishimura A, Sudo A, Uchida A (2012) Recurrent k nee valgus deformity in Ellis-van Creveld syndrome. J Pediatr Orthop B 21: 352–5PubMedGoogle Scholar
  42. 35.
    Garavelli L, De BD, Verri R, Guareschi E, Cariola F, Melis D, Calcagno G, Salvatore F, Unger S, Sebastio G, Albertini G, Rivieri F, Soli F, Superti-Furga A, Gentile M (2008) Holt -Oram syndrome associated with anomalies of the feet. Am J Med Genet A 1: 1185–9Google Scholar
  43. 36.
    Ghani I, Kroeber M (2012) Beneficial effects following microsurgical decompression in an adult with congenital thoraco-lumbar kyphoscoliosis with spina bifida aperta and myelomeningocele: an interesting case report. Arch Orthop Trauma Surg 132: 1085–7PubMedGoogle Scholar
  44. 37.
    Gjolaj JP, Sponseller PD, Shah SA, Newton PO, Flynn JM, Neubauer PR, Marks MC, Bastrom TP (2012) Spinal deformity correction in Marfan syndrome versus a dolescent idiopathic scoliosis: learning from the differences. Spine 37: 1558–65PubMedGoogle Scholar
  45. 38.
    Glorieux FH, Rauch F (2006 ) Medical therapy of children with fibrous dysplasia. J Bone Miner Res 21: 110–3Google Scholar
  46. 39.
    Gunal I, Kiter E (2003) Disorders associated wi th osteopoikilosis: 5 different lesions in a family. Acta Orthop Scand 74: 497–9PubMedGoogle Scholar
  47. 40.
    Hafkemeyer U, Verhoeven G, Koller A, Wetz H (2001) Das Holt-Oram-Syndrom. Drei Fallbeispiele und deren krankengymnastische, ergotherapeutische und orthopädie-technische Behandlung. Orthopäde 30: 226–30PubMedGoogle Scholar
  48. 41.
    Harada D, Yamanaka Y, Ueda K, Nishimura R, Morishima T, Seino Y, Tanaka H (2007) Sustained phosphorylation of mutated FGFR3 is a crucial feature of genetic dwarfism and induces apoptosis in the ATDC5 chondrogenic cell line via PLCgamma-activated STAT1. Bone 41: 273–81PubMedGoogle Scholar
  49. 42.
    Hassan A, Whately C, Letts M (2010) The orthopaedic manifestations and mana gement of children with Stuve-Wiedemann syndrome. J Bone Joint Surg Br 92: 880–4PubMedGoogle Scholar
  50. 43.
    Healey D, Letts M, Jarvis J (2002) Cervi cal spine instability in children with Goldenhars syndrome. Can J Surg 45: 341–4PubMedCentralPubMedGoogle Scholar
  51. 44.
    Hefti F (2008) Defektmissbildungen an den unteren Extremitäten. Orthopäde 37: 381–402PubMedGoogle Scholar
  52. 45.
    Houeijeh A, Andrieux J, Saugier-Veber P, David A, Goldenberg A, Bonneau D, Fouassier M, Journel H, Martinovic J, Escande F, Devisme L, Bisiaux S, Chaffiotte C, Baux M, Kerckaert JP, Holder-Espinasse M, Manouvrier-Hanu S (2011) Thrombocytopeniaabsent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the a ssociated 1q21.1 deletion on the genetic counselling. Eur J Med Genet 54: e471–7PubMedGoogle Scholar
  53. 46.
    Hsu S, Levine M (2002) Primary hyperparathyroidism in children and adolescents: the Johns Hopki ns Children's Center experience 1984–2001. J Bone Miner Res 17 (Suppl 2): N44–50PubMedGoogle Scholar
  54. 47.
    Kanazawa I, Yamauchi M, Yano S, Imanishi Y, Kitazawa R, Nariai Y, Araki A, Kobayashi K, Inaba M, Maruyama R, Yamaguchi T, Sugimoto T (2009) Osteosarcoma in a pregnant patient with McCune-Albright syndrome. Bone 45: 603–8PubMedGoogle Scholar
  55. 48.
    Kannu P, Aftimos S, Mayne V, Donnan L, Savarirayan R (2007) Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history. Am J Med Genet A 1: 2512–22Google Scholar
  56. 49.
    Karbowski A, Eckardt A, Rompe JD (1995) Multiple kartilaginare Exostosen. Orthopäde 24: 37–43PubMedGoogle Scholar
  57. 50.
    Kaushik S, Smoker W, Frable W (2002) Malignant transformation of fibrous dysplasia into chondroblastic osteosarcoma. Skeletal Radiol 31: 103–6PubMedGoogle Scholar
  58. 51.
    Kocher M, Kasser J (2003) Osteopetrosis. Am J Orthop 32: 222–8PubMedGoogle Scholar
  59. 52.
    Kornak U (2004) Genetik und Pathophysiologie der Osteopetrose. Med Gen 16: 39–43Google Scholar
  60. 53.
    Lam C (2000) A theory on the embryogenes is of oculoauriculo-vertebral (Goldenhar) syndrome. J Craniofac Surg 11: 547–52PubMedGoogle Scholar
  61. 54.
    Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, Turner J, Cannons JL, Bick D, Blakemore L, Blumhorst C, Brockmann K, Calder P, Cherman N, Deardorff MA, Everman DB, Golas G, Greenstein RM, Kato BM, Keppler-Noreuil KM, Kuznetsov SA, Miyamoto RT, Newman K, Ng D, O’Brien K, Rothenberg S, Schwartzentruber DJ, Singhal V, Tirabosco R, Upton J, Wientroub S, Zackai EH, Hoag K, Whitewood-Neal T, Robey PG, Schwartzberg PL, Darling TN, Tosi LL, Mullikin JC, Biesecker LG (2011) A mosaic activatin g mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 365: 611–9Google Scholar
  62. 55.
    Link B, Miebach E, Vetter T, Schmitt D, Beck M, Meurer A (2008) Mukopolysaccharidosen. Orthopäde 37: 24–30PubMedGoogle Scholar
  63. 56.
    Loeys B, Dietz H, Braverman A, Callewaert B, De Backer J, Devereux R, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz D, Pyeritz R, Sponseller P, Wordsworth P, De Paepe AM (2010) The revised Ghent nosology for the Marfan syndrome. J Med Genet 47: 476–85PubMedGoogle Scholar
  64. 57.
    Lounev VY, Ramachandran R, Wosczyna MN, Yamamoto M, Maidment AD, Shore EM, Glaser DL, Goldhamer DJ, Kaplan FS (2009) Identification of progenitor cells that contribute to heterotopic skeletogenesis. J Bone Joint Surg Am 91: 652–63PubMedCentralPubMedGoogle Scholar
  65. 58.
    Luk K, Yip D (2002) Congenital anteroposterior spinal dissociation in Larsen's Syndrome: report on two operated cases with longterm follow-up. Spine 27: E296–300PubMedGoogle Scholar
  66. 59.
    M, Guha A, Skaggs D (2002) Orthopaedic man ifestations of neurofibromatosis in children: an update. Clin Orthop 401: 107–18Google Scholar
  67. 60.
    Makitie O, Savarirayan R, Bonafe L, Robertson S, Susic M, Superti-Furga A, Cole WG (2003) Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the D TDST gene: double-layer patella as a reliable sign. Am J Med Genet A 122: 187–92Google Scholar
  68. 61.
    Mason D, Sanders J, MacKenzie W, Nakata Y, Winter R (2002) Spinal deformity in chondrodysplasia punctata. Spine 27: 1995–2002PubMedGoogle Scholar
  69. 62.
    Mayer SW, Hug KT, Hansen BJ, Bolognesi MP (2012) Total knee arthroplasty in osteopetrosis using patient-specific instrumentation. J Arthroplasty 27: 1580.e1–4Google Scholar
  70. 63.
    McClure SD, Van dVS, Fillman R, Yandow S (2007) New finding of protrusio acetabuli in two families with congenital contr actural arachnodactyly. A report of seven cases. J Bone Joint Surg Am 89: 849–54PubMedGoogle Scholar
  71. 64.
    McDonald MM, Morse A, Peacock L, Mikulec K, Schindeler A, Little DG (2011) Characterization of the bone phenotype and fracture repair in osteopetrotic incisors absent rats. J Orthop Res 29: 726–33PubMedGoogle Scholar
  72. 65.
    McKay SD, Al-Omari A, Tomlinson LA, Dormans JP (2012) Review of cervical spine anomalies in genetic syndromes. Spine 37: E269–77PubMedGoogle Scholar
  73. 66.
    Mehlman C, Rubinstein J, Roy D (1998) Instability of th e patellofemoral joint in Rubinstein-Taybi syndrome. J Pediatr Orthop 18: 508–11PubMedGoogle Scholar
  74. 67.
    Mills T, Hiorns M, Hall C (2001) Symmetrical enchondromatosis without vertebral involvement and with cone-shaped phalangeal epiphyses. Skeletal Radiol 30: 346–9PubMedGoogle Scholar
  75. 68.
    Moller G, Priemel M, Amling M, Werner M, Kuhlmey A, Delling G (1999) The Gorham-Stout syndrome (Gorham's massive osteolysis). A report of six cases with histopathological findings. J Bone Joint Surg Br 81: 501–6PubMedGoogle Scholar
  76. 69.
    Muenzer J, Fisher A (2004) Adv ances in the treatment of mucopolysaccharidosis type I. N Engl J Med 350: 1932–4PubMedGoogle Scholar
  77. 70.
    Murnaghan LM, Thurgur CH, Forster BB, Sawatzky BJ, Hawkins R, Tredwell SJ (2007) A clinic oradiologic study of the shoulder in Apert syndrome. J Pediatr Orthop 27: 838–43PubMedGoogle Scholar
  78. 71.
    Nevin N, Thomas P, Davis R, Cowie G (1999) Melorheostosi s in a family with autosomal dominant osteopoikilosis. Am J Med Genet 82: 409–14PubMedGoogle Scholar
  79. 72.
    Noonan K, Feinberg J, Levenda A, Snead J, Wurtz L (2002) Natural history of multiple hereditary osteochondromatosis of the lower extremity and ankle. J Pediatr Orthop 22: 120–4PubMedGoogle Scholar
  80. 73.
    Nouri H, Jaafoura H, Bouaziz M, Ouertatani M, Abid L, Meherzi MH, Ladeb MF, Mestiri M (2011) Dedifferentiated ada mantinoma associated with fibrous dysplasia. Orthop Traumatol Surg Res 97: 770–5PubMedGoogle Scholar
  81. 74.
    Oestreich A, Mitchell C, Akeson J (2002) Both Tre vor and Ollier disease limited to one upper extremity. Skeletal Radiol 31: 230–4PubMedGoogle Scholar
  82. 75.
    Parilla B, Leeth E, Kambich M, Chilis P, MacGregor S (2003) Antenatal detection of skeletal dysplasias. J Ultrasound Med 22: 255–8PubMedGoogle Scholar
  83. 76.
    Park E, Putnam E, Chitayat D, Child A, Milewicz D (1998) Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development. Am J Med Genet 78: 350–5PubMedGoogle Scholar
  84. 77.
    Parrot MJ (1878) Sur la malformation achondroplastique et le dieu Ptah. Bull Soc Anthropol Paris 1: 29–6Google Scholar
  85. 78.
    Pazzaglia UE, Zarattini G, Donzelli C, Benetti A, Bondioni MP, Groli C (2008) The nature of cartilage stippling in chondrodysplasia punctata: histo pathological study of Conradi-Hunermann syndrome. Fetal Pediatr Pathol 27: 71–81PubMedGoogle Scholar
  86. 79.
    Pedrini E, Jennes I, Tremosini M, Milanesi A, Mordenti M, Parra A, Sgariglia F, Zuntini M, Campanacci L, Fabbri N, Pignotti E, Wuyts W, Sangiorgi L (2011) Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: iden tification of »protective« and »risk« factors. J Bone Joint Surg Am 93: 2294–302PubMedGoogle Scholar
  87. 80.
    Pino AE, Temple HT (2012) Three cases of melorheostosis with foot and ankle involvement. Am J Orthop 41: E115–9PubMedGoogle Scholar
  88. 81.
    Piza-Katzer H, Baur EM, Rieger M, Balogh B (2008) Eine »einfach e« Methode zur Korrektur der Apert-Hand. Handchir Mikrochir Plast Chir 40: 322–9PubMedGoogle Scholar
  89. 82.
    Pollandt K, Engels C, Werner M, Delling G (2002) Fibrous dysplasia. Pathologe 23: 351–356PubMedGoogle Scholar
  90. 83.
    Porter DE, Lonie L, Fraser M, Dobson-Stone C, Porter JR, Monaco AP, Simpson AH (2004) Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study. J Bone Joint Surg Br 86: 1041–6PubMedGoogle Scholar
  91. 84.
    Prockop DJ (2004) Targeting gene therapy for osteogenesis imperfecta. N Engl J Med 350: 2302–4Google Scholar
  92. 85.
    Ramaswamy R, Kosashvili Y, Cameron H (2010) Total hip replacement in patients with multiple epiphyseal dysplasia with a mean follow-up of 15 years and survival analysis. J Bone Joint Surg Br 92: 489–95PubMedGoogle Scholar
  93. 86.
    Ransford AO, Crockard HA, Stevens JM, Modaghegh S (1996) Occipito-atl anto-axial fusion in Morquio-Brailsford syndrome. J Bone Joint Surg 78-B: 307–13Google Scholar
  94. 87.
    Rauch F, Travers R, Norman M, Taylor A, Parfitt A, Glorieux F (2002) The bone formati on defect in idiopathic juvenile osteoporosis is surface-specific. Bone 31: 85–9PubMedGoogle Scholar
  95. 88.
    Remes V, Poussa M, Lonnqvist T, Puusa A, Tervahartiala P, Helenius I, Peltonen J (2004) Walking ability in patients with diastrophic dysplasia: a clinical, electroneurophysiological, treadmill, and MRI analysis. J Pediatr Orthop 24: 546–51PubMedGoogle Scholar
  96. 89.
    Richette P, Bardin T, Stheneur C (2008) Achondroplasia: from genotype to phenotype. Joint Bone Spine 75: 125–30PubMedGoogle Scholar
  97. 90.
    Rowe P (2001) Why is rickets resurgent in the USA? Lancet 357: 110–0Google Scholar
  98. 91.
    Ryu YG, Baek MJ, Kim HK, Choi YH, Sohn YS, Kim HJ (2009) Simultaneous repair for aortic incompetence with annuloaortic ectasia and pectus excavatum by modified Ravitch procedure with pectus bars in an adult patient with Marfan syndrome. J Thorac Cardiovasc Surg 137: e34–6PubMedGoogle Scholar
  99. 92.
    Schmale GA, Conrad EU 3rd, Raskind WH (1994) The natural history of hereditary multiple exostoses. J Bone Joint Surg 76-A: 986–92Google Scholar
  100. 93.
    Schulz AS, F riedrich W (2004) Therapie der malignen infantilen Osteopetrose. Medgen 16: 44–8Google Scholar
  101. 94.
    Semler O, Land C, Schonau E (2007) Bisphosphonat-Therapie bei Kindern und Jugendlichen mit primären und sekundären osteoporotischen Erkrankungen. Orthopäde 36: 146–51PubMedGoogle Scholar
  102. 95.
    Shirley ED, Ain MC (2009 ) Achondroplasia: manifestations and treatment. J Am Acad Orthop Surg 17: 231–41Google Scholar
  103. 96.
    Shroff R, Beringer O, Rao K, Hofbauer LC, Schulz A (2012) Denosumab for post-transplantation hypercalcemia in osteopetrosis. N Engl J Med 367: 1766–7PubMedGoogle Scholar
  104. 97.
    Sponseller PD, Erkula G, Skolasky RL, Venuti KD, Dietz HC (2010) Imp roving clinical recognition of Marfan syndrome. J Bone Joint Surg Am 92: 1868–75PubMedGoogle Scholar
  105. 98.
    Spranger JW, Brill PW, Nishimura G, Superti-Furga A, Unger S (2012) Bone dysplasias. Oxford University Press, N.Y.Google Scholar
  106. 99.
    Stanley G, McLoughlin S, Beals R (2002) Ob servations on the cause of bowlegs in achondroplasia. J Pediatr Orthop 22: 112–6PubMedGoogle Scholar
  107. 100.
    Stevens D, Fink B, Pre vel C (2000) Poland's syndrome in one identical twin. J Pediatr Orthop 20: 392–5PubMedGoogle Scholar
  108. 101.
    Stoll C, Viville B, Treisser A, Gasser B (1998) A family with dominant oculoauriculovertebral spectrum. Am J Med Genet 78: 345–9PubMedGoogle Scholar
  109. 102.
    Tau C, Mautalen C, Casco C, Alvarez V, Rubinstein M (2004) Chronic idiopathic hyperphosphatasia: normalization of bone turnover with cyclical intravenous pamidronate therapy. Bone 35: 210–6PubMedGoogle Scholar
  110. 103.
    Thompson DN, Slaney SF, Hall CM, Shaw DG, Jones BM, Hayward RD (1996) Congenital cervical spinal fusion: a study in Apert syndrome. Pediatr Neurosurg 25 (1): 20–7PubMedGoogle Scholar
  111. 104.
    Tosi LL, Sapp JC, Allen ES, O‘Keefe RJ, Biesecker LG (2011) Assessment and management of the orthopedic and other complications od Proteus syndrome. J Child Orthop 5: 319–27PubMedCentralPubMedGoogle Scholar
  112. 105.
    Tovetjarn R, Tarnow P, Maltese G, Fischer S, Sahlin PE, Kolby L (2012) Children with Apert syndrome as adults: a follow-up study of 28 Scandinavian patients. Plast Reconstr Surg 130: 573e–7eGoogle Scholar
  113. 106.
    Trigui M, Ayadi K, Sakka M, Zribi W, Frikha F, Gdoura F, Sallemi S, Zribi M, Keskes H (2011) Manifestations or thopédiques de la neurofibromatose de Von Recklinghausen. Presse Méd 40: e152–62PubMedGoogle Scholar
  114. 107.
    Van de Velde S, Fillman R, Yandow S (2006) Protrusio acetabuli in Mar fan syndrome. History, diagnosis, and treatment. J Bone Joint Surg Am 88: 639–46Google Scholar
  115. 108.
    Verdegaal SH, Bovee JV, Pansuriya TC, Grimer RJ, Ozger H, Jutte PC, San JM, Biau DJ, van dGIC, Leithner A, Streitburger A, Klenke FM, Gouin FG, Campanacci DA, Marec-Berard P, Hogendoorn PC, Brand R, Taminiau AH (2011) Incidence, predictive factors, and prognosis of chondrosarcoma in patients with Ollier disease and Maffucci syn drome: an international multicenter study of 161 patients. Oncologist 16: 1771–9PubMedCentralPubMedGoogle Scholar
  116. 109.
    Vitale M, Guha A, Skaggs D (2002) Orthopaedic manifestations of neurofibromatosis in children: an update. Clin Orthop 401 (401): 107–18PubMedGoogle Scholar
  117. 110.
    Walker M, Gabikian P (2006) Benign and malignant pathology in neurofibromatosis type 1. Neurology 67: E1–3Google Scholar
  118. 111.
    Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier, G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A (2011). Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet Part A 155: 943–68PubMedCentralGoogle Scholar
  119. 112.
    Witkowski R, Prokop O, Ullrich E (1995) Lexikon der Syndrome und Fehlbildungen. Springer, HeidelbergGoogle Scholar
  120. 113.
    Wirth T (2008) Spondyloepiphysäre und metaphysäre Dysplasie. Orthopäde 37: 8–16PubMedGoogle Scholar
  121. 114.
    Wirth T (2012) Osteogenesis imperfecta. Orthopäde 41: 773–82PubMedGoogle Scholar
  122. 115.
    Wynne-Davies R, Gormley J (1985) The prevalence of skeletal dysplasias. J Bone Joint Surg 67-B: 133–137Google Scholar
  123. 116.
    Zabel B, Hilbert K, Stoss H, Superti-Furga A, Spranger J, Winterpacht A (1996) A specific collagen type II gene (COL2A 1) mutation presenting as spondyloperipheral dysplasia. Am J Med Genet 63: 123–8PubMedGoogle Scholar
  124. 117.
    Zeitlin L, Fassier F, Glorieux FH (2003) Modern approach to children with osteogenesis imperfecta. J Pediatr Orthop B 12: 77–87PubMedGoogle Scholar
  125. 1.
    Amiri K, Hagerman RJ, Hagerman P J (2008) Fragile X-associated tremor/ataxia syndrome: an aging face of the fragile X gene. Arch Ne urol 65: 19–25Google Scholar
  126. 2.
    Cuckle H (1999) Maternal age-standardisation of prevalence of Down's syndrome. Lancet 354: 529–30PubMedGoogle Scholar
  127. 3.
    Dietz FR, Albanese SA, Katz DA, Dobbs MB, Salamon PB, S choenecker PL, Sussman MD (2004) Slipped capital femoral epiphysis in down syndrome. J Pediatr Orthop 24: 508–13PubMedGoogle Scholar
  128. 4.
    Halliday J, Collins V, Riley M, Youssef D, Muggli E (2009) Has prenatal screening influenced the prevalence of comorbidities associated with Down syndrome and subsequent survival rates? Pediatrics 123: 256–61PubMedGoogle Scholar
  129. 5.
    Khoshnood B, Pryde P, Wall S, Singh J, Mittendorf R, Lee K (2000) Ethnic differences in the impact of advanced maternal age on birth prevalence of Down syndrome. Am J Public Health 90: 1778–81PubMedCentralPubMedGoogle Scholar
  130. 6.
    Kosashvili Y, Taylor D, Backstein D, Safir O, Libe rman B, Lakstein D, Gross A (2011) Total hip arthroplasty in patients with Down's syndrome. Int Orthop 35: 661–6PubMedCentralPubMedGoogle Scholar
  131. 7.
    McKay SD, Al-Oma ri A, Tomlinson LA, Dormans JP (2012) Review of cervical spine anomalies in genetic syndromes. Spine 37: E269–77PubMedGoogle Scholar
  132. 8.
    Merrick J, Ezra E, Josef B, Hendel D, Steinberg D, Wientroub S (2000) Musculoskeletal problems in Down Syndrome European Paediatric Orthopaedic Society Survey: the Israeli sample. J Pediatr Ortho p B 9: 185–92Google Scholar
  133. 9.
    Pizzutillo PD, Herman MJ (2005) Cervical spine issues in Down syndrome. J Pediatr Orthop 25: 253–9PubMedGoogle Scholar
  134. 10.
    Rovensky J, Imrich R, Lazurova I, Payer J (2010) Rheumatic diseases and Klinefelter's syndrome. Ann N Y Acad Sci 1193: 1–9PubMedGoogle Scholar
  135. 11.
    Sankar WN, Schoenecker JG, Mayfield ME, Kim YJ, Millis MB (2012) Acetabular retroversion in Down syndrome. J Pediatr Orthop 32: 277–81PubMedGoogle Scholar
  136. 12.
    van Gameren-Oosterom H, Buitendijk S, Bilardo C, van der Pal-de Bruin K, Van Wouwe J, AD M (2012) Unchanged prevalence of Down syndrome in the Netherlands: results from an 11-year nationwide birth cohort. Prenat Diagn 32: 1035–40Google Scholar
  137. 1.
    Akazawa H, Oda K, Mit ani S, Yoshitaka T, Asaumi K, Inoue H (1998) Surgical management of hip dislocation in children with arthrogryposis multiplex congenita. J Bone Joint Surg Br 80: 636– 40PubMedGoogle Scholar
  138. 2.
    Angsanuntsukh C, Oto M, Holmes L, Rogers KJ, King MM, Donohoe M, Kumar SJ (2011) Congenital vertical talus in multiple pterygium syndrome. J Pediatr Orthop 31: 564–9PubMedGoogle Scholar
  139. 3.
    Arnold WD, Hilgartner MW (1977) Hemophilic arthropathy. Current concepts of pathogenesis and management. J Bone Joint Surg 59-A: 287–305Google Scholar
  140. 4.
    A xt MW, Niethard FU, Döderlein L, Weber M (1997) Principles of treatment of the upper extremity in arthrogryposis multiplex congenita type I. J Pediatr Orthop B 6:179–85Google Scholar
  141. 5.
    Bamshad M, Van Heest AE, Pleasure D (2009) Arthrogryposis: a review an d update. J Bone Joint Surg Am 91(Suppl 4): 40–6PubMedCentralPubMedGoogle Scholar
  142. 6.
    Brunner R (1997a) Auswirkungen der aponeurotischen Verlängerung auf den Muskel. Habilitationsschrift, Universität BaselGoogle Scholar
  143. 7.
    Brunner R, Hefti F, Tgetgel JD (1997b) Arthrogrypotic joint contracture at the knee and the foot-Correction with a circular frame. J Pediatr Orthop 6: 192–7Google Scholar
  144. 8.
    Choi IH, Yang MS, Chung CY, Cho TJ, Sohn YJ (2001) The treatment of recurrent arthrogrypotic club foot in children by the Ilizarov method. A preliminary report. J Bone Joint Surg Br 83: 731–7PubMedGoogle Scholar
  145. 9.
    Damsin JP, Trousseau A (1996) Treatment of severe flexion deformity of the knee in children and adolescents using the Ilizarov technique. J Bone Joint Surg Br 78: 140–4PubMedGoogle Scholar
  146. 10.
    Dotti M, Orrico A, De Stefano N, Batti sti C, Sicurelli F, Severi S, Lam C, Galli L, Sorrentino V, Federico A (2002) A Rett syndrome MECP2 mutation that causes mental retar dation in men. Neurology 58: 226–30PubMedGoogle Scholar
  147. 11.
    Eidelman M, Katzman A (2011) Treatment of arthrogrypotic foot deformities with the Taylor Spatial Frame. J Pediatr Orthop 31: 429–34PubMedGoogle Scholar
  148. 12.
    Gabos PG, Inan M, Thacker M, Borkhu B (2012) Spinal fusion for scoliosis in Rett syndrome with an emphasis on early post operative complications. Spine 37: E90–4PubMedGoogle Scholar
  149. 13.
    Han Z, Jeon H, Kim S, Park J, Chung H (2012) Clinical characteristics of children with Rett syndrome. Ann Rehab il Med 36: 334–9Google Scholar
  150. 14.
    Kroonen LT, Herman M, Pizzutillo PD, Macewen GD (2006) Prader-Willi Syndrome: clinical concerns for the orthopaedic surgeon. J Ped iatr Orthop 26: 673–9Google Scholar
  151. 15.
    Parikh SN, Crawford AH, Do TT, Roy DR (2004) Popliteal pterygium syndrome: implications for orthopaedic management. J Pediatr Ort hop B 13: 197–201Google Scholar
  152. 16.
    Parsch K, Pietrzak S (2007) Arthrogryposis multiplex congenita. Orthopäde 36: 281–90PubMedGoogle Scholar
  153. 17.
    Po ber B (2010) Williams-Beuren syndrome. N Engl J Med 362: 239–52Google Scholar
  154. 18.
    Ramer JC, Ladda RL, Demuth WW (1998) Multiple pterygium syndrome. An overview. A m J Dis Child 142: 794–8Google Scholar
  155. 19.
    Riise R, Brox JI, Sorensen R, Skjeldal OH (2011) Spinal deformity and disability in patients with Rett syndrome. Dev Med Child Neurol 53: 653–7PubMedGoogle Scholar
  156. 20.
    Roposch A, Bhaskar A, Lee F, Adedapo S, Mousny M, Alman B (2004) Orthopaedic manifestations of Brachmann-de Lange syndrome: a report of 34 patients. J Pediatr Orthop B 13: 118–22PubMedGoogle Scholar
  157. 21.
    Rutz E, Gaston MS, Camath ias C, Brunner R (2012) Distal femoral osteotomy using the LCP pediatric condylar 90-degree plate in patients with neuromuscular disorders. J Pediatr Orthop 32: 295–300PubMedGoogle Scholar
  158. 22.
    Scott A, Tibesar R, Sidman J (2012) Pierre Robin Sequence: evaluation, management, indications for surgery, and pitfalls. Otol aryngol Clin North Am 45: 695–710Google Scholar
  159. 23.
    Shim JS, Lee SH, Seo SW, Koo KH, Jin DK (2010) The musculoskeletal manifestations of Prader-Willi syndrome. J Pedia tr Orthop 30: 390–5Google Scholar
  160. 24.
    Stilli S, Antonioli D, Lampasi M, Donzelli O (2012) Management of hip contractures and dislocations in arthrogryposis. Musculoskelet Surg 961: 17–21Google Scholar
  161. 25.
    Stocker B, Reichel H, Nelitz M (2009) Koalitionen des Rückfusses als seltene Differenzialdiagnosen des angeborenen Klumpfusses. Z Orthop Unfall 147: 424–6PubMedGoogle Scholar
  162. 26.
    Sung S, Brassington A, Krakowiak P, Carey J, Jorde L, Bamshad M (2003) Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Am J Hum Genet 73: 212–4PubMedCentralPubMedGoogle Scholar
  163. 27.
    Verzijl HT, van dZB, Cruysberg JR, Padberg GW (2003) Mobius syndrome redefined: a syndrome of rhombencephalic maldevelopment. Neurology 61: 327–33PubMedGoogle Scholar
  164. 28.
    Wynne-Davies R, Gormly J (1985) The prevalence of skelettal dysplasias. J Bone Join t Surg Br 67: 133–7Google Scholar
  165. 29.
    Yang SS, Dahan-Oliel N, Montpetit K, Hamdy RC (2010) Ambulation gains after knee surgery in children with arthrogryposis. J Pediatr Orthop 30: 863–9PubMedGoogle Scholar
  166. 30.
    Yau P, Chow W, Li Y, Leong J (2002) Twenty-year follow-up of hip problems in arthrogryposis multiplex congenita. J Pediatr Orthop 22: 359–63PubMedGoogle Scholar
  167. 1.
    Arnold WD, Hilgartner MW (1977) Hemophilic arthropathy. Current concepts of pathogenesis and management. J Bone Joint Sur g 59-A: 287–305Google Scholar
  168. 2.
    Boiret-Dupre N, Descamps S, Coudore MA, Rapatel C, Kuentz M, Pereira S, Tournadre J, Berger J, Morell P, Berger MG (2009) Effects of imiglucerase treatment on traumatic fracture and bone and blood abnormalities in a patient with previously untreated type 1 gaucher disease. Clin Ther 31: 2900–4PubMedGoogle Scholar
  169. 3.
    Bubbar V, Heras FL, Amato D, Pritzker KP, Gross AE (2009) Total hip replacement in Gaucher's disease: effects of enzyme replacement therapy. J Bone Joint Sur g Br 91: 1623–7Google Scholar
  170. 4.
    Burkhead WZ Jr, Rockwood CA Jr (1992) Treatment of instability of the shoulder with an exercise program. J Bone Joint S urg 74-A: 890–6Google Scholar
  171. 5.
    Erlemann R, Wortler K (1999) Bildgebende Diagnostik der hämophilen Osteoarthropathie. Ortho päde 28: 329–40Google Scholar
  172. 6.
    Franchini M, Mannucci P (2012) Past, present and future of hemophilia: a narrative review. Orphanet J R are Dis 7: 25–9Google Scholar
  173. 7.
    Gerber BE, al-Khodairy AT, Morscher E, Hefti F (1996) Offene Laserchirurgie am Bewegungsapparat. Orth opäde 25: 56–63Google Scholar
  174. 8.
    Gilbert MS, Aledort LM, Seremetis S, Needleman B, Oloumi G, Forster A (1996) Long term evaluation of septic arthritis in hemophilic patients. Clin Orthop Relat Res 328: 54–9PubMedGoogle Scholar
  175. 9.
    Hovy L (1999) Gelenkerhaltende Operationen und endoprothetischer Gelenkersatz bei Blutern. Ortho päde 28: 356–65Google Scholar
  176. 10.
    Hughes D, Pastores G (2010) The pathophysiology of GD–current understanding and rationale for existing and emerging therapeutic approaches. Wien Med Wschr 160(23–24): 594–9PubMedGoogle Scholar
  177. 11.
    Jacob A, Driscoll D, Shaughnessy W, Stanson A, Clay R, Gloviczki P (1998) Klippel-Trenaunay syndrome: spectrum and management. Mayo Clin Proc 73: 28–36PubMedGoogle Scholar
  178. 12.
    Jones PK, Ratnoff OD (1991) The changing prognosis of classic hemophilia (factor VIII »deficiency«). Ann Intern Med 114: 641–8PubMedGoogle Scholar
  179. 13.
    Journeycake J, Miller K, Anderson A, Buchanan G, Finnegan M (2003) Arthroscopic synovectomy in children and adolescents with hemophilia. J Pediatr Hematol Oncol 25: 726–31PubMedGoogle Scholar
  180. 14.
    Kreuz W, Escuriola EC, Funk M, Pons S, Schmidt H, Kornhuber B (1999) Prävention von Gelenkveränderungen bei hämophilen Kindern durch frühzeitige Prophylaxe. Orth opäde 28: 341–6Google Scholar
  181. 15.
    Legroux-Gerot I, Strouk G, Parquet A, Goodemand J, Gougeon F, Duquesnoy B (2003) Total knee arthroplasty in hemophilic arthropathy. Joint Bone Spine 70: 22–32PubMedGoogle Scholar
  182. 16.
    Liu Y, Gao R, Zhou X, Yuan W (2011) Posterior spinal fusion for scoliosis in Ehlers-Danlos syndrome, kyphoscoliosis type. Orth opedics 34: 22–8Google Scholar
  183. 17.
    Manco-Johnson M, Nuss R, Lear J, Wiedel J, Geraghty S, Hacker M, Funk S, Kilcoyne R, Murphy J (2002) 32P Radiosynoviorthesis in children with hemophilia. J Pediatr Hematol Oncol 24: 534–9PubMedGoogle Scholar
  184. 18.
    Mikosch P, Hughes D (2010) An overview on bone manifestations in Gaucher disease. Wien Med Wochenschr 160 (23–24): 609–24PubMedGoogle Scholar
  185. 19.
    Nathwani AC, Tuddenham EGD, Rangarajan S (2011) Adeno-virusassociated virus vector–mediated gene transfer in hemo-philia B. N Engl J M ed 365: 2357–65Google Scholar
  186. 20.
    Oduber CE, van der Horst CM, Hennekam RC (2008) Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology. Ann Plast Surg 60: 217–23PubMedGoogle Scholar
  187. 21.
    Pastores G (2010) Neuropathic Gaucher disease. Wien Med Wschr 160 (23–24): 605–8PubMedGoogle Scholar
  188. 22.
    Pettersson H, Ahlberg A, Nilson IM (1980) A radiographic classification of hemophilic osteoarthropathy. Clin Or thop 149: 153–8Google Scholar
  189. 23.
    Ponder KP (2011) Merry christmas for patients with hemophilia B. N Engl J Med 365: 2424–5PubMedGoogle Scholar
  190. 24.
    Proske S, Hartschuh W, Enk A, Hausser I (2006) Ehlers-Danlos syndrome – 20 years experience with diagnosis and classification at the university skin clinic of Heidelberg. J Dtsch Dermatol Ges 4: 308–18PubMedGoogle Scholar
  191. 25.
    Solimeno L, Luck J, Fondanesche C, McLaughlin P, Narayan P, Sabbour A, Sohail T, Pasta G (2012) Knee arthropathy: when things go wrong. Haemop hilia 4: 105–11Google Scholar
  192. 26.
    Stanitski D, Nadjarian R, Stanitski C, Bawle E, Tsipouras P (2000) Orthopädic manifestations of Ehlers-Danlos syndrome. Clin Ort hop 376: 213–21Google Scholar
  193. 27.
    Stephensen D, Tait RC, Brodie N, Collins P, Cheal R, Keeling D, Melton K, Dolan G, Haye H, Hayman E, Winter M (2009) Changing patterns of bleeding in patients with severe haemophilia A. Haemoph ilia 15: 1210–4Google Scholar
  194. 28.
    Wallny T, Lahaye L, Brackmann H, Hess L, Seuser A, Kraft C (2002) Clinical and radiographic scores in haemophilic arthropathies: how well do these correlate to subjective pain status and daily activities? Haemo philia 8: 802–8Google Scholar
  195. 29.
    Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier, G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A, (2011). Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet Part A 155: 943–68PubMedCentralGoogle Scholar
  196. 30.
    Ying SH, Chen WM, Wu PK, Chen CF, Liu CL, Chen TH (2012) Pelvic hemophilic pseudotumor presenting as severe sciatic pain in a patient with no history of hemophilic symptoms. J Orthop Sci 17: 490–4PubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Fritz Hefti
    • 1
  1. 1.Universitätskinderspital beider Basel (UKBB)BaselSchweiz

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