Osteochondral diseases and fibrodysplasia ossificans progressiva

Advances in Experimental Medicine and Biology

Volumn 686, Issue , 2010, Pages 335-348

  Morales Piga, Antonio ^a   Kaplan, Frederick S ^b  

^a Instituto de Salud Carlos III   (Spain)

^b NONE

Author keywords

Constitutional disorders of bone; Early clinical and radiological detection; Fibrodysplasia ossificans progressiva; Genetic counseling; Osteochondrodysplasias; Paternal age effect; Pre natal molecular analysis; Prenatal ultrasound

Indexed keywords

ARTICLE; CHONDRODYSPLASIA; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; EARLY DIAGNOSIS; ENVIRONMENTAL FACTOR; FAMILIAL DISEASE; FETUS ECHOGRAPHY; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GEOGRAPHIC DISTRIBUTION; HEREDITY; HUMAN; MORTALITY; OSSIFYING MYOSITIS; PATERNAL AGE; PREVALENCE; PRIORITY JOURNAL; RISK FACTOR; TOE MALFORMATION; FEMALE; GENETICS; MALE; PREGNANCY; PRENATAL DIAGNOSIS; RARE DISEASE; REVIEW;

FEMALE; HUMANS; MALE; MYOSITIS OSSIFICANS; OSTEOCHONDRODYSPLASIAS; PREGNANCY; PRENATAL DIAGNOSIS; RARE DISEASES;

EID: 79952050451     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-90-481-9485-8_19     Document Type: Article

References (41)

1. Al-Gazali LI, Bakir M, Hamid Z, Varady E, Varghes M, Haas D, Bener A, Padmanabhan R, Abdulrrazzzaq YM, Dawod AK (2003) Birth Prevalence and Pattern of Osteochondrodysplasias in an inbred high risk population. Birth Defects Res 67: 125-132 (Pubitemid 38222005)
2. Andersen PE (1989) Prevalence of lethal osteochondrodysplasias in Denmark. Am J Med Genet 32:484-489
3. Andersen PE, Hauge M (1989) Congenital generalised bone dysplasias: A clinical, radiological, and epidemiological survey. J Med Genet 27:37-44 (Pubitemid 19034692)
4. Briggs MD, Hoffman SMG, King LM, Olsen AS, Mohrenweiser H, Leroy JG, Mortier GR, Rimoin DL, Lachman RS, Gaines ES, Cekleniak JA, Knowlton RG, Cohn DH (1995) Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Nature Genet 10:330-336
5. Byers PH (1989) Inherited disorders of collagen gene structure and expression. Am J Med Genet 34:72-80 (Pubitemid 19228951)
6. Camera G, Mastroiacovo P (1982) Birth prevalence of skeletal dysplasias in the Italian multicentric monitoring system for birth defects. Prog Clin Biol Res 104:441-449
7. Connor JM, Connor RAC, Sweet EM, Gibson AAM, Patrick WJA, McNay MB, Redford DHA (1985) Lethal neonatal chondrodysplasias in the west of Scotland 1970-1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant. Am J Med Genet 22:243-253 (Pubitemid 16255849)
8. Curran JP, Sigmon BA, Opitz JM (1974) Lethal forms of chondrodysplastic dwarfism. Pediatrics 53:76-85
9. FOP Rx Guidelines: The International Clinical Consortium on FOP (2008). The medical management of fibrodysplasia ossificans progressiva: Current treatment considerations. Clin Proc Intl Clin Consort FOP 3:1-85
10. Gustavson KH, Jorulf H (1975) Different types of osteochondrodysplasia in a consecutive series of newborns. Helv Paediatr Acta 30:307-314
11. Hastbacka J, Salonen R, Laurila P, de la Chapelle A, Kaitila I (1993) Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers. J Med Genet 30:265-268 (Pubitemid 23120477)
12. Hebela N, Shore EM, Kaplan FS (2005) Three pairs of monozygotic twins with fibrodysplasia ossificans progressiva: The role of environment in the progression of heterotopic ossification. Clin Rev Bone Miner Metab 3:205-208 (Pubitemid 41400336)
13. Hecht JT, Butler IJ (1990) Neurologic morbidity associated with achondroplasia. J Child Neurol 5:84-97 (Pubitemid 20213436)
14. Janoff HB, Tabas JA, Shore EM, MuenkeM, Dalinka MK, Schlesinger S, Zasloff MA, Kaplan FS (1995) Mild expression of fibrodysplasia ossificans progressiva. J Rheumatol 22:976-978
15. Janoff HB, Muenke M, Johnson LO, Rosenberg A, Shore EM, Okereke E, Zasloff M, Kaplan FS (1996) Fibrodysplasia ossificans progressiva in two half-sisters: Evidence for maternal mosaicism. Am J Med Genetics 61:320-324
16. Kallen B, Knudsen LB, Mutchinick O, Mastroiacovo P, Lancaster P, Castilla E, Robert E (1993) Monitoring dominant germ cell mutations using skeletal dysplasias registered in malformation registries: An international feasibility study. Int J Epidemiol 22:107-115 (Pubitemid 23083961)
17. Kaplan FS, McCluskey W, Hahn G et al (1993) Genetic transmission of fibrodysplasia ossificans progressiva. J Bone Joint Surg (Am) 75:1214-1220 (Pubitemid 23267913)
18. Kaplan FS, Shore EM, Connor JM (2002) Fibrodysplasia ossificans progressiva (FOP). In Royce PM, Steinmann B (eds) Connective tissue and its heritable disorders: Molecular, genetic, and medical aspects, 2nd edn. Wiley-Liss, John Wiley & Sons, Inc., New York, pp 827-840
19. Kaplan FS, Glaser DL, Shore EM (2006) Fibrodysplasia (myositis) ossificans progressiva. In Favus MJ (ed) Primer on the metabolic bone diseases and disorders of mineral metabolism, 6th edn. The American Society for Bone andMineral Research,Washington, DC, pp 450-453
20. Kaplan FS, Le MerrerM, Glaser DL, Pignolo RJ, Goldsby RE, Kitterman JA, Groppe J (2008) Fibrodysplasia ossificans progressiva. Best Practice Res Clin Rheumatol 22:191-205 (Pubitemid 351325734)
21. Kaplan FS, Xu M, Glaser DL, Collins F, Connor M, Kitterman J, Sillence D, Zackai E, Ravitsky V, Zasloff M, Ganguly A, Shore EM (2008) Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics 121: E1295-e1300
22. Kitterman JA, Kantanie S, Rocke DM, Kaplan FS (2005) Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva. Pediatrics 116: E654-e661 (Pubitemid 46056396)
23. Lian ZH, Zack MM, Erickson DJ (1986) Paternal age and the occurrence of birth defects. Am J Hum Genet 39:648-660 (Pubitemid 17071147)
24. McKusick VA, Scott CI (1971) A nomenclature for constitutional disorders of bone. J Bone Joint Surg (Am) 53:978-986
25. Orioli IM, Castilla EE, Barbosa-Neto JG (1986) The birth prevalence rates for the skeletal dysplasias. J Med Genet 23:328-332 (Pubitemid 16070733)
26. Orioli IM, Castilla EE, Scarano G, Mastroiacovo P (1995) Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta. Am J Med Genet 59:209-217
27. Rasmussen SA, Bieber FR, Benacerraf BR, Lachman RS, Rimoin DL, Holmes LB (1996) Epidemiology of osteochondrodysplasias: Changing trends due to advances in prenatal diagnosis. Am J Med Genet 61:49-58
28. Rogers JG, Chase GA (1979) Paternal age effect in fibrodysplasia ossificans progressiva. J Med Genet 16:147-148 (Pubitemid 9164910)
29. Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, Le Merrer M, Munnich A (1994) Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 371:252-254 (Pubitemid 24293024)
30. Sánchez O, Brito Arreaza A, Álvarez Arratia M, Ramírez N (1991) Prevalencia de displasias esqueléticas en recién nacidos en el hospital Ruiz y Paéz de Ciudad Bolívar, Venezuela. Invest Clin 32:67-76
31. Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, BocianM,Winokur ST,Wasmuth JJ (1994) Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78:335-342 (Pubitemid 24241100)
32. Shore EM, Feldman GJ, Xu M, Kaplan FS (2005) The genetics of fibrodysplasia ossificans progressiva. Clin Rev Bone Mineral Metabolism 3:201-204 (Pubitemid 41400335)
33. Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ, Choi IH, Connor JM, Delai P, Glaser DL, Le Merrer M, Morhart L, Rogers JG, Smith R, Triffitt JT, Urtizberea JA, Zasloff M, Brown MA, Kaplan FS (2006) A recurrent mutation in the BMP type 1 receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet 38: 525-527
34. Spranger J (1992) International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone. Eur J Pediatr 151:407-415
35. Stoll C, Dott B, Roth MP, Alembik Y (1989) Birth prevalence rates of skeletal dysplasias. Clin Genet 35:88-92 (Pubitemid 19062297)
36. Superti-Furga A, Unger S, and the Nosology Group of the International Skeletal Dysplasia Society (2007) Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet 143A:1-18 (Pubitemid 46051466)
37. Tilstra DJ, Byers PH (1994) Molecular basis of hereditary disorders of connective tissue. Annu Rev Med 45:149-163 (Pubitemid 24158152)
38. Virdi AS, Shore EM, Oreffo RO, Li M, Connor JM, Smith R, Kaplan FS, Triffitt, JT (1999) Phenotypic and molecular heterogeneity in fibrodysplasia ossificans progressiva. Calcified Tissue Int 65:250-255 (Pubitemid 29380349)
39. Waller DK, Correa A, Vo TM, Wang Y, Hobbs C, Langlois PH, Pearson K, Romitti PA, Shaw GM, Hecht JT (2008) The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. Am J Med Genet Part A 146A:2385-2389
40. Wen SW, Liu S, Joseph Ks, Rouleau J, Allen A (2000) Patterns of infant mortality caused by major congenital anomalies. Teratology 61:342-346 (Pubitemid 30258819)
41. Wynn J, King TM, Gambello MJ, Waller DK, Hecht JT (2007) Mortality in acondroplasia study: A 42-year follow-up. Am J Med Genet Part A 143A:2502-2511 (Pubitemid 350058162)