Literature DB >> 8587093

Mild expression of fibrodysplasia ossificans progressiva: a report of 3 cases.

H B Janoff1, J A Tabas, E M Shore, M Muenke, M K Dalinka, S Schlesinger, M A Zasloff, F S Kaplan.   

Abstract

We describe 3 unusually mild cases of fibrodysplasia ossificans progressiva (FOP) in an 80-year-old man, a 44-year-old woman, and a 17-year-old woman. The man, whose daughter had classic features of FOP, lacked malformation of the great toes and experienced unusually slow progression of the disease. Both women displayed late onset heterotopic ossification. The older women displayed an unusually slow progression of the disease. All 3 patients remained ambulatory at the time of examination. Recognition of a mild form of FOP will influence diagnosis, counselling, and research in this rare condition.

Entities:  

Mesh:

Year:  1995        PMID: 8587093

Source DB:  PubMed          Journal:  J Rheumatol        ISSN: 0315-162X            Impact factor:   4.666


  4 in total

1.  Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31.

Authors:  G Feldman; M Li; S Martin; M Urbanek; J A Urtizberea; M Fardeau; M LeMerrer; J M Connor; J Triffitt; R Smith; M Muenke; F S Kaplan; E M Shore
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

Review 2.  Fibrodysplasia ossificans progressiva: diagnosis, management, and therapeutic horizons.

Authors:  Robert J Pignolo; Eileen M Shore; Frederick S Kaplan
Journal:  Pediatr Endocrinol Rev       Date:  2013-06

Review 3.  Osteochondral diseases and fibrodysplasia ossificans progressiva.

Authors:  Antonio Morales-Piga; Frederick S Kaplan
Journal:  Adv Exp Med Biol       Date:  2010       Impact factor: 2.622

4.  ACVR1 gene mutation in sporadic Korean patients with fibrodysplasia ossificans progressiva.

Authors:  Dong Yeon Lee; Tae-Joon Cho; Hye Ran Lee; Moon Seok Park; Won Joon Yoo; Chin Youb Chung; In Ho Choi
Journal:  J Korean Med Sci       Date:  2009-06-12       Impact factor: 2.153

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.