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Literature DB >> 28579631

Fibrodysplasia ossificans progressiva: a case report.

Abstract

Fibrodysplasia Ossificans Progressiva is a rare debilitating disorder of the musculoskeletal system affecting one in two million individuals. It is characterized by progressive extraskeletal ossification of soft tissues resulting in the original skeleton being encased in unyielding new bone leading to disability and ultimately death from cardiorespiratory failure. The present case brings to light the delays and potential pitfalls in diagnosis as a result of the rarity of the condition.

Entities: Disease

Keywords: ACVR1; Extra-skeletal ossification; Fibrodysplasia Ossificans Progressiva; Hallux valgus; Steroids

Mesh：

Substances：

Year: 2016 PMID： 28579631 PMCID： PMC5443673 DOI： 10.4314/gmj.v50i4.8

Source DB: PubMed Journal: Ghana Med J ISSN： 0016-9560

16 in total

1. Fibrodysplasia ossificans progressiva: a human genetic disorder of extraskeletal bone formation, or--how does one tissue become another?

Authors: Eileen M Shore
Journal: Wiley Interdiscip Rev Dev Biol Date: 2012 Jan-Feb Impact factor: 5.814

2. The danger of biopsy in fibrodysplasia ossificans progressiva.

Authors: Xin Zan; Jie Wang; Chao You
Journal: Arch Dis Child Date: 2012-03-23 Impact factor: 3.791

3. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.

Authors: Eileen M Shore; Meiqi Xu; George J Feldman; David A Fenstermacher; Tae-Joon Cho; In Ho Choi; J Michael Connor; Patricia Delai; David L Glaser; Martine LeMerrer; Rolf Morhart; John G Rogers; Roger Smith; James T Triffitt; J Andoni Urtizberea; Michael Zasloff; Matthew A Brown; Frederick S Kaplan
Journal: Nat Genet Date: 2006-04-23 Impact factor: 38.330

4. Myositis ossificans progressiva (Munchmeyer's disease). Brief review with report of two cases treated with corticosteroids and observed for 16 years.

Authors: R S Illingworth
Journal: Arch Dis Child Date: 1971-06 Impact factor: 3.791

5. Palovarotene Inhibits Heterotopic Ossification and Maintains Limb Mobility and Growth in Mice With the Human ACVR1(R206H) Fibrodysplasia Ossificans Progressiva (FOP) Mutation.

Authors: Salin A Chakkalakal; Kenta Uchibe; Michael R Convente; Deyu Zhang; Aris N Economides; Frederick S Kaplan; Maurizio Pacifici; Masahiro Iwamoto; Eileen M Shore
Journal: J Bone Miner Res Date: 2016-03-12 Impact factor: 6.741

6. Deformity of the great toe in fibrodysplasia ossificans progressiva.

Authors: Yasuharu Nakashima; Nobuhiko Haga; Hiroshi Kitoh; Junji Kamizono; Koji Tozawa; Takenobu Katagiri; Takafumi Susami; Jun-ichi Fukushi; Yukihide Iwamoto
Journal: J Orthop Sci Date: 2010-11-30 Impact factor: 1.601

7. Early diagnosis of fibrodysplasia ossificans progressiva.

Authors: Frederick S Kaplan; Meiqi Xu; David L Glaser; Felicity Collins; Michael Connor; Joseph Kitterman; David Sillence; Elaine Zackai; Vardit Ravitsky; Michael Zasloff; Arupa Ganguly; Eileen M Shore
Journal: Pediatrics Date: 2008-05 Impact factor: 7.124

Fibrodysplasia ossificans progressiva: a case report.

1. Fibrodysplasia ossificans progressiva: a human genetic disorder of extraskeletal bone formation, or--how does one tissue become another?

2. The danger of biopsy in fibrodysplasia ossificans progressiva.

3. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.

4. Myositis ossificans progressiva (Munchmeyer's disease). Brief review with report of two cases treated with corticosteroids and observed for 16 years.

5. Palovarotene Inhibits Heterotopic Ossification and Maintains Limb Mobility and Growth in Mice With the Human ACVR1(R206H) Fibrodysplasia Ossificans Progressiva (FOP) Mutation.

6. Deformity of the great toe in fibrodysplasia ossificans progressiva.

7. Early diagnosis of fibrodysplasia ossificans progressiva.

8. Consideration of Rituximab for fibrodysplasia ossificans progressiva.

Review 9. Fibrodysplasia ossificans progressiva: clinical and genetic aspects.

10. Fibrodysplasia ossificans progressiva: report of a case and review of articles.

1. Fibrodysplasia ossificans progressiva: A rare disease with spinal deformity and severe hip dysfunction.

2. Fibrodysplasia ossificans progressiva (stone man syndrome): a case report.