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Akondroplasi

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  14. Hall JG, Horton W, Kelly T and Scott CI. Head growth in achondroplasia: use of ultrasound studies. Am J Med Genet 1982; 13: 105. PubMed  
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  29. Boor R, Fricke G, Bruhl K and Spranger J. Abnormal subcortical somatosensory evoked potentials indicate high cervical myelopathy in achondroplasia. Eur J Pediatr 1999; 158: 662-7. PubMed  
  30. Rimoin DL. Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression. Am J Hum Genet 1995; 56: 824-7. PubMed  
  31. Pyeritz RE, Sack Jr GH and Udvarhelyi GB. Thoracolumbosacral laminectomy in achondroplasia: long-term results in 22 patients. Am J Med Genet 1987; 28: 433-44. PubMed  
  32. Pauli RM, Horton VK, Glinski LP and Reiser CA. Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. Am J Hum Genet 1995; 56: 732-44. PubMed  
  33. Baujat G,Legeai-Mallet L, Cormier-Daire V, Le Merrer M. Achondroplasia. Best Practice & Research . Clinical Rheumatology 2008; 22: 3-18. PubMed  
  34. Cohen Jr MM, Walker GF and Phillips C. A morphometric analysis of the craniofacial configuration in achondroplasia. J Craniofac Genet Dev Biol 1985; Suppl 1: 139-65.
  35. Superti-Furga A and Unger S. Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A 2007; 143: 1-18. PubMed  
  36. Ho NC, Guarnieri M, Brant LJ, et al. Living with achondroplasia: quality of life evaluation following cervico-medullary decompression. Am J Med Genet A 2004; 131: 163-7. PubMed  
  37. Lachman RS. Neurologic abnormalities in the skeletal dysplasias: a clinical and radiological perspective. Am J Med Genet 1997; 69: 33-43. PubMed  
  38. Hecht JT, Francomano CA, Horton WA and Annegers JF. Mortality in achondroplasia. Am J Hum Genet 1987; 41: 454-64. PubMed  
  39. Gollust SE, Thompson RE, Gooding HC and Biesecker BB. Living with achondroplasia in an average-sized world: an assessment of quality of life. Am J Med Genet A 2003; 120: 447-58. PubMed  
  40. Mahomed NN, Spellmann M and Goldberg MJ. Functional health status of adults with achondroplasia. Am J Med Genet 1998; 78: 30-5. PubMed  
  41. Tasker RC, Dundas I, Laverty A, Fletcher M, Lane R, Stocks J. Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical sleep and lung function study. Arch Dis Child 1998; 79: 99-108. PubMed  
  • Otto Westphal, docent och överläkare, Centrum för pediatrisk tillväxtforskning, Sahlgrenska akademin, Göteborgs universitet

Tidigare sakkunniga

  • Nina Riise, överläkare, TRS kompetansesenter for sjeldne diagnoser, Sunnaas sykehus HF
  • Heidi Johansen, arbetsterapeut, master i helsefagvitenskap, TRS kompetansesenter for sjeldne diagnoser, Sunnaas sykehus HF