Osteochondral diseases and fibrodysplasia ossificans progressiva.
Osteochondrodysplasias like thanatophoric dysplasia, osteogenesis imperfecta, achondroplasia, and other genetic skeletal disorders like fibrodysplasia ossificans progressiva are infrequently seen in clinical practice. In cases of sporadic achondroplasia as well as in fibrodysplasia ossificans progressiva, there is a strong association with paternal age, a relationship that is less evident in other genetic osteochondral diseases. No other constitutional or environmental factor has proven to be associated with these disorders. The use of prenatal ultrasonography as a routine component of prenatal care is crucial in the early suspicion of osteochondrodysplasias whereas definitive diagnosis is usually obtained by pre-natal molecular analysis. In the case of fibrodysplasia ossificans progressiva, recognition of congenital great toe malformations associated with rapidly-appearing soft tissue swelling is sufficient to make the proper clinical diagnosis, which can be confirmed by genetic testing. Large regional centres will improve diagnosis performance, provide accurate genetic counselling, and ensure an integral assistance for these often severe and incapacitating conditions.
Morales-Piga
Antonio
A
Jefe de Servicio de Proyectos Clínicos del Instituto de Investigación de Enfermedades Raras, Instituto de Salud Carlos III, Sinesio Delgado, 6, 28029, Madrid, Spain. amorales@isciii.es
Kaplan
Frederick S
FS
D005260:Female; D006801:Humans; D008297:Male; D009221:Myositis Ossificans / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D035583:Rare Diseases / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics
Best Pract Res Clin Rheumatol. 2008 Mar;22(1):191-205
18328989
J Child Neurol. 1990 Apr;5(2):84-97
2161033
Am J Med Genet A. 2008 Sep 15;146A(18):2385-9
18698630
J Bone Joint Surg Am. 1993 Aug;75(8):1214-20
8354680
Nature. 1994 Sep 15;371(6494):252-4
8078586
Am J Med Genet A. 2007 Nov 1;143A(21):2502-11
17879967
Prog Clin Biol Res. 1982;104:441-9
7163285
Am J Med Genet A. 2007 Jan 1;143A(1):1-18
17120245
Nat Genet. 2006 May;38(5):525-7
16642017
Cell. 1994 Jul 29;78(2):335-42
7913883
Invest Clin. 1991;32(2):67-76
1807399
Int J Epidemiol. 1993 Feb;22(1):107-15
8449630
J Med Genet. 1986 Aug;23(4):328-32
3746832
Am J Med Genet. 1985 Oct;22(2):243-53
3901754
Nat Genet. 1995 Jul;10(3):330-6
7670472
Am J Med Genet. 1996 Feb 2;61(4):320-4
8834042
J Med Genet. 1989 Jan;26(1):37-44
2783977
Am J Med Genet. 1995 Nov 6;59(2):209-17
8588588
J Rheumatol. 1995 May;22(5):976-8
8587093
Am J Med Genet. 1989 Apr;32(4):484-9
2789000
Am J Hum Genet. 1986 Nov;39(5):648-60
3788977
Pediatrics. 2008 May;121(5):e1295-300
18450872
Am J Med Genet. 1996 Jan 2;61(1):49-58
8741918
Eur J Pediatr. 1992 Jun;151(6):407-15
1628667
Helv Paediatr Acta. 1975 Oct;30(3):307-14
1184400
Am J Med Genet. 1989 Sep;34(1):72-80
2683783
J Med Genet. 1993 Apr;30(4):265-8
8487268
J Bone Joint Surg Am. 1971 Jul;53(5):978-86
5557608
Birth Defects Res A Clin Mol Teratol. 2003 Feb;67(2):125-32
12769508
J Med Genet. 1979 Apr;16(2):147-8
287808
Pediatrics. 2005 Nov;116(5):e654-61
16230464
Annu Rev Med. 1994;45:149-63
8198373
Pediatrics. 1974 Jan;53(1):76-85
4809196
Clin Genet. 1989 Feb;35(2):88-92
2785882
Calcif Tissue Int. 1999 Sep;65(3):250-5
10441661
Teratology. 2000 May;61(5):342-6
10777829