Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutation

Mohammed Saleh, Joost Commandeur, Renata Bocciardi, Grace Kinabo, Ben Hamel

Research output: Contribution to journalArticlepeer-review

Abstract

Fibrodysplasia ossificans progressiva is a rare autosomal dominantly inherited disorder of connective tissue caused by mutations in the gene encoding for ACVR1/ALK2, a bone morphogenetic protein type I receptor. It is mainly characterized by congenital malformations of the great toes and the formation of qualitatively normal bone in extra-skeletal sites leading to severe disability and eventually death. We present a sporadic case from Northern Tanzania with a minor unilateral hallux anomaly and the common ACVR1 c.617G>A mutation.

Original languageEnglish
Article number299
JournalThe Pan African medical journal
Volume22
DOIs
Publication statusPublished - Nov 24 2015

Keywords

  • Fibrodysplasia ossificans progressiva
  • Hallux valgus
  • Heterotopic ossification
  • Recurrent ACVR1 mutation

ASJC Scopus subject areas

  • Medicine(all)

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