Skelettale Entwicklungsstörungen

Die skelettalen Entwicklungsstörungen bilden eine heterogene Gruppe von 456 Entitäten, denen krankhafte Veränderungen der Knochen- oder Knorpelstruktur zugrunde liegen. Sie gehen für die Betroffenen teilweise mit großen Einbußen der Lebensqualität und Lebenserwartung einher und enden nicht selten bereits vor der Geburt letal. Während insbesondere durch die Verbesserung der molekulargenetischen Methoden die Pathogenese dieser Erkrankungen ergründet werden konnte, ist die Therapie nach wie vor beschränkt auf das Management der Symptome.

• Literatur

• 1 Warman ML, Cormier-Daire V, Hall C et al. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A 2011; 155?A: 943-968
• 2 Unal MS, Tufan AC. Mesenchymal stem cells and C-type natriuretic peptide signaling: a proposal of a new treatment approach for skeletal dysplasias. Curr Stem Cell Res Ther 2015; [Epub ahead of print]
• 3 Justi C. Diego Velazquez und sein Jahrhundert. Bd I. Bonn: Cohen; 1888
• 4 Rubin P. On organizing a dynamic classification of bone dysplasias. Arthritis Rheum 1964; 7: 693-708
• 5 Offiah AC. Skeletal dysplasias: An overview. Endocr Dev 2015; 28: 259-276
• 6 Niethard FU, Pfeil J, Bieberthaler P. Duale Reihe Orthopädie und Unfallchirurgie. 7. Aufl. Stuttgart: Thieme; 2014
• 7 Forlino A, Cabral WA, Barnes AM et al. New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol 2011; 7: 540-557
• 8 Harrington J, Sochett E, Howard A. Update on the evaluation and treatment of osteogenesis imperfecta. Pediatr Clin North Am 2014; 61: 1243-1257
• 9 Sillence DO, Horton WA, Rimoin DL. Morphologic studies in the skeletal dysplasias. Am J Pathol 1979; 96: 813-870
• 10 Lindahl K, Langdahl B, Ljunggren O et al. Treatment of osteogenesis imperfecta in adults. Eur J Endocrinol 2014; 171: R79-90
• 11 Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A 2014; 164?A: 1470-1481
• 12 Füeßl H, Middeke M. Duale Reihe Anamnese und klinische Untersuchung. 5. Aufl. Stuttgart: Thieme; 2014
• 13 Salzmann M, Krohn C, Berger N. Osteogenesis imperfecta. Orthopäde 2014; 43: 764-771
• 14 Hoyer-Kuhn H, Semler O, Stark C et al. A specialized rehabilitation approach improves mobility in children with osteogenesis imperfecta. J Musculoskelet Neuronal Interact 2014; 14: 445-453
• 15 Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet 2007; 370: 162-172
• 16 Baujat G, Legeai-Mallet L, Finidori G et al. Achondroplasia. Best Pract Res Clin Rheumatol 2008; 22: 3-18
• 17 Kaissi AA, Farr S, Ganger R et al. Treatment of varus deformities of the lower limbs in patients with achondroplasia and hypochondroplasia. Open Orthop J 2013; 7: 33-39
• 18 Koudela K, Koudela K, Koudelova J. [Total knee arthroplasty in severe valgus deformity in a patient with achondroplasia]. Acta Chir Orthop Traumatol Cech 2011; 78: 578-582
• 19 Wright MJ, Irving MD. Clinical management of achondroplasia. Arch Dis Child 2012; 97: 129-134
• 20 Panda A, Gamanagatti S, Jana M et al. Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias. World J Radiol 2014; 6: 808-825
• 21 Donaldson J, Aftab S, Bradish C. Achondroplasia and limb lengthening: Results in a UK cohort and review of the literature. J Orthop 2015; 12: 31-34
• 22 Aldegheri R, DallʼOca C. Limb lengthening in short stature patients. J Pediatr Orthop B 2001; 10: 238-247
• 23 Cattaneo R, Villa A, Catagni M et al. Limb lengthening in achondroplasia by Ilizarovʼs method. Int Orthop 1988; 12: 173-179
• 24 Shimony N, Ben-Sira L, Sivan Y et al. Surgical treatment for cervicomedullary compression among infants with achondroplasia. Childs Nerv Syst 2015; 31: 743-750
• 25 Wendt DJ, Dvorak-Ewell M, Bullens S et al. Neutral endopeptidase-resistant C-type natriuretic peptide variant represents a new therapeutic approach for treatment of fibroblast growth factor receptor 3-related dwarfism. J Pharmacol Exp Ther 2015; 353: 132-149
• 26 Wit JM, Oostdijk W. Novel approaches to short stature therapy. Best Pract Res Clin Endocrinol Metab 2015; 29: 353-366
• 27 Bouali H, Latrech H. Achondroplasia: current options and future perspective. Pediatr Endocrinol Rev 2015; 12: 388-395
• 28 Rohenkohl AC, Bullinger M, Quitmann J. Lebensqualität bei Kindern, Jugendlichen und jungen Erwachsenen mit Achondroplasie. Orthopäde 2015; 44: 212-218
• 29 Ireland PJ, Pacey V, Zankl A et al. Optimal management of complications associated with achondroplasia. Appl Clin Genet 2014; 7: 117-125
• 30 Le Goff C, Cormier-Daire V. Chondrodysplasias and TGFβ signaling. Bonekey Rep 2015; 4: 642
• 31 Borrego E, Farrington DM, Downey FJ. [Advances in bone dysplasias]. Rev Esp Cir Ortop Traumatol 2014; 58: 171-181
• 32 Anthony S, Munk R, Skakun W et al. Multiple epiphyseal dysplasia. J Am Acad Orthop Surg 2015; 23: 164-172
• 33 Krakow D. Skeletal dysplasias. Clin Perinatol 2015; 42: 301-319 viii
• 34 Yang B, Lin J, Jin J et al. A rare genetic disease – spondyloepiphyseal dysplasia. Chin Med J (Engl) 2010; 123: 2727-2731
• 35 Wirth T. Spondyloepiphysäre und metaphysäre Dysplasie. Orthopäde 2008; 37: 8-16
• 36 Turner LM, Steffensen TS, Leroy J et al. Spondyloepiphyseal dysplasia congenita. Fetal Pediatr Pathol 2010; 29: 57-62
• 37 Robinson D, Tieder M, Halperin N et al. Spondyloepiphyseal dysplasia associated with progressive arthropathy. An unusual disorder mimicking juvenile rheumatoid arthritis. Arch Orthop Trauma Surg 1989; 108: 397-399
• 38 Yoleri O, Oz B, Olmez N et al. Spondyloepiphyseal dysplasia tarda with progressive arthropathy complicated with paraplegia. Am J Phys Med Rehabil 2011; 90: 490-494
• 39 Charles JF, Aliprantis AO. Osteoclasts: more than ʼbone eaters . Trends Mol Med 2014; 20: 449-459
• 40 Jin Z, Li X, Wan Y. Minireview: nuclear receptor regulation of osteoclast and bone remodeling. Mol Endocrinol 2015; 29: 172-186
• 41 Coudert AE, Del Fattore A, Baulard C et al. Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology. Lab Invest 2014; 94: 275-285
• 42 Essabar L, Meskini T, Ettair S et al. Malignant infantile osteopetrosis: case report with review of literature. Pan Afr Med J 2014; 17: 63
• 43 Coudert AE, de Vernejoul MC, Muraca M et al. Osteopetrosis and its relevance for the discovery of new functions associated with the skeleton. Int J Endocrinol 2015; 2015: 372156
• 44 Orchard PJ, Blazar BR, Wagner J et al. Hematopoietic cell therapy for metabolic disease. J Pediatr 2007; 151: 340-346
• 45 Mendoza-Londono R, Lee B. Cleidocranial dysplasia. In: Pagon RA, Adam MP, Ardinger HH, et al., eds GeneReview. Seattle (WA): Univ Washington; 1993
• 46 Matsuo M. [Cleido-cranial dysplasia]. Ryoikibetsu Shokogun Shirizu 2000; (305) 279-280
• 47 Dhiman NK, Singh AK, Sharma NK et al. Cleidocranial dysplasia. Natl J Maxillofac Surg 2014; 5: 206-208
• 48 Madeira MF, Caetano IM, Dias-Ribeiro E et al. Orthognathic surgery in patients with cleidocranial dysplasia. J Craniofac Surg 2015; 26: 792-795
• 49 Chang H, Wei J, Wang Y et al. Restorative treatment strategies for patients with cleidocranial dysplasia. Acta Odontol Scand 2015; 73: 447-453
• 50 Sewell MD, Higgs DS, Lambert SM. Clavicle lengthening by distraction osteogenesis for congenital clavicular hypoplasia: case series and description of technique. J Pediatr Orthop 2013; 33: 314-320
• 51 Van Tongel A, Piepers I, De Wilde L. The significance of the clavicle on shoulder girdle function. J Shoulder Elbow Surg 2015; 24: e255-e259

• Zum Weiterlesen und Vertiefen

• Warman ML, Cormier-Daire V, Hall C et al. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet Pt A 2011; 155?A: 943-968
• Harrington J, Sochett E, Howard A. Update on the evaluation and treatment of osteogenesis imperfecta. Pediat Clin North Am 2014; 61: 1243-1257
• Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet Pt A 2014; 164?A: 1470-1481
• Ireland PJ, Pacey V, Zankl A et al. Optimal management of complications associated with achondroplasia. Appl Clin Genet 2014; 7: 117-125
• Bouali H, Latrech H. Achondroplasia: Current options and future perspective. Pediat Endocrinol Rev 2015; 12: 388-395
• Panda A, Gamanagatti S, Jana M, Gupta AK. Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias. World journal of radiology 2014; 6: 808-825
• Wirth T. Spondyloepiphysäre und metaphysäre Dysplasie. Orthopäde 2008; 37: 8-16