title: Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutation.
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.
authors.affiliation: Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 2240, Moshi, Tanzania.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Saleh
authors.affiliation: Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 2240, Moshi, Tanzania; Department of Internal Medicine, Kilimanjaro Christian Medical Centre, P.O. Box 2240, Moshi, Tanzania.
authors.forename: Joost
authors.initials: J
authors.lastname: Commandeur
authors.affiliation: Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health and CEBR, Università Degli Studi di Genova, Via G. Gaslini, 5, 16147 Genova, Italy; Istituto Giannina Gaslini, Medical Genetics Unit, Via G. Gaslini, 5, 16147 Genova, Italy.
authors.forename: Renata
authors.initials: R
authors.lastname: Bocciardi
authors.affiliation: Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 2240, Moshi, Tanzania.
authors.forename: Grace
authors.initials: G
authors.lastname: Kinabo
authors.affiliation: Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.
authors.forename: Ben
authors.initials: B
authors.lastname: Hamel
mesh_terms: D030201:Activin Receptors, Type I / Q000235:genetics*; D002648:Child; D005260:Female; D006214:Hallux / Q000002:abnormalities*; D006801:Humans; D009154:Mutation; D009221:Myositis Ossificans / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D013636:Tanzania
chemical_list: C425423:ACVR1 protein, human; D030201:Activin Receptors, Type I
keywords: Fibrodysplasia ossificans progressiva; hallux valgus; heterotopic ossification; recurrent ACVR1 mutation