Anomalie réductionnelle transverse et fibrodysplasie ossifiante progressive atypique, à propos d’un cas de diagnostic tardif

Translated title of the contribution: Transverse reductional anomaly and atypical fibrodysplasia ossificans progressiva: A case diagnosed late

J Paysal, C Sarret, E Merlin, R Ravazzolo, R Bocciardi, J-M Garcier, S Monnot, F Laffargue, G Baujat, S Echaubard

Research output: Contribution to journalArticlepeer-review

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare disease characterized by the association of congenital bone abnormalities and extraskeletal ossification flare-ups occurring in muscles and fasciae. Early diagnosis is important to prevent ossification flare-ups, but some atypical presentations can lead to errors in diagnosis and therefore delay. Here, we report on a case of an atypical presentation of FOP in a girl, in whom prominent transverse reductional abnormalities delayed diagnosis. The patient developed extraskeletal ossifications and progressive fibrosis that led to motor restrictions. Since early diagnosis is important, we discuss the clinical presentations of FOP and the differential diagnoses.

Translated title of the contributionTransverse reductional anomaly and atypical fibrodysplasia ossificans progressiva: A case diagnosed late
Original languageFrench
Pages (from-to)547-551
Number of pages5
JournalArchives de Pediatrie
Volume24
Issue number6
DOIs
Publication statusPublished - Jun 2017

Keywords

  • English Abstract
  • Journal Article

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