Late-onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis

American Journal of Medical Genetics, Part A

Volumn 155, Issue 6, 2011, Pages 1492-1495

  Barnett, Christopher P ^a   Dugar, Manish ^b   Haan, Eric A ^a  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b ROYAL ADELAIDE HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

METHOTREXATE; SALAZOSULFAPYRIDINE;

ADD ON THERAPY; ADULT; ANKYLOSING SPONDYLITIS; ASPIRATION BIOPSY; BONE SCINTISCANNING; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DIAGNOSTIC ERROR; DISEASE COURSE; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; IMMUNOFLUORESCENCE; LETTER; LUMBAR SPINE; MANDIBLE TUMOR; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; OSSIFYING MYOSITIS; PATIENT REFERRAL; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RADIODIAGNOSIS; SPINE DISEASE; SPINE RADIOGRAPHY; SPONDYLOARTHROPATHY; THYROID TUMOR; TREATMENT DURATION; TREATMENT WITHDRAWAL;

ACTIVIN RECEPTORS, TYPE I; ADULT; AGE FACTORS; DIAGNOSIS, DIFFERENTIAL; DIAGNOSTIC ERRORS; FEMALE; HUMANS; MYOSITIS OSSIFICANS; POINT MUTATION; SPINE; SPONDYLITIS, ANKYLOSING;

EID: 79956209641     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34003     Document Type: Letter

References (9)

1. Cohen RB, Hahn GV, Tabas JA, Peeper J, Levitz CL, Sando A, Sando N, Zasloff M, Kaplan FS. 1993. The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. A study of forty-four patients. J Bone Joint Surg Am 75: 215-219.
2. Gannon FH, Valentine BA, Shore EM, Zasloff MA, Kaplan FS. 1998. Acute lymphocytic infiltration in an extremely early lesion of fibrodysplasia ossificans progressiva. Clin Orthop Relat Res 346: 19-25.
3. Kaplan FS, Xu M, Seemann P, Connor JM, Glaser DL, Carroll L, Delai P, Fastnacht-Urban E, Forman SJ, Gillessen-Kaesbach G, Hoover-Fong J, Köster B, Pauli RM, Reardon W, Zaidi SA, Zasloff M, Morhart R, Mundlos S, Groppe J, Shore EM. 2009. Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat 30: 379-390.
4. Lanchoney TF, Cohen RB, Rocke DM, Zasloff MA, Kaplan FS. 1995. Permanent heterotopic ossification at the injection site after diphtheria-tetanus-pertussis immunizations in children who have fibrodysplasia ossificans progressiva. J Pediatr 126: 762-764.
5. Luchetti W, Cohen RB, Hahn GV, Rocke DM, Helpin M, Zasloff M, Kaplan FS. 1996. Severe restriction in jaw movement after routine injection of local anesthetic in patients who have fibrodysplasia ossificans progressiva. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 81: 21-25.
6. Mahboubi S, Glaser DL, Shore EM, Kaplan FS. 2001. Fibrodysplasia ossificans progressiva. Pediatr Radiol 31: 307-314.
7. Petrie KA, Lee WH, Bullock AN, Pointon JJ, Smith R, Russell RG, Brown MA, Wordsworth BP, Triffitt JT. 2009. Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. PLoS One 4: e5005.
8. Shore EM, Kaplan FS. 2008. Insights from a rare genetic disorder of extra-skeletal bone formation, fibrodysplasia ossificans progressiva (FOP). Bone 43: 427-433.
9. Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ, Choi IH, Connor JM, Delai P, Glaser DL, LeMerrer M, Morhart R, Rogers JG, Smith R, Triffitt JT, Urtizberea JA, Zasloff M, Brown MA, Kaplan FS. 2006. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet 38: 525-527.