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Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutation.
Pan Afr Med J. 2015; 22:299.PA

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+Show Affiliations

Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 2240, Moshi, Tanzania.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.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.Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 2240, Moshi, Tanzania.Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

26966495

Citation

Saleh, Mohammed, et al. "Fibrodysplasia Ossificans Progressiva With Minor Unilateral Hallux Anomaly in a Sporadic Case From Northern Tanzania With the Common ACVR1c.617G>A Mutation." The Pan African Medical Journal, vol. 22, 2015, p. 299.
Saleh M, Commandeur J, Bocciardi R, et al. Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutation. Pan Afr Med J. 2015;22:299.
Saleh, M., Commandeur, J., Bocciardi, R., Kinabo, G., & Hamel, B. (2015). Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutation. The Pan African Medical Journal, 22, 299. https://doi.org/10.11604/pamj.2015.22.299.8032
Saleh M, et al. Fibrodysplasia Ossificans Progressiva With Minor Unilateral Hallux Anomaly in a Sporadic Case From Northern Tanzania With the Common ACVR1c.617G>A Mutation. Pan Afr Med J. 2015;22:299. PubMed PMID: 26966495.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutation. AU - Saleh,Mohammed, AU - Commandeur,Joost, AU - Bocciardi,Renata, AU - Kinabo,Grace, AU - Hamel,Ben, Y1 - 2015/11/24/ PY - 2015/09/24/received PY - 2015/11/14/accepted PY - 2016/3/12/entrez PY - 2015/1/1/pubmed PY - 2016/12/15/medline KW - Fibrodysplasia ossificans progressiva KW - hallux valgus KW - heterotopic ossification KW - recurrent ACVR1 mutation SP - 299 EP - 299 JF - The Pan African medical journal JO - Pan Afr Med J VL - 22 N2 - 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. SN - 1937-8688 UR - https://www.unboundmedicine.com/medline/citation/26966495/Fibrodysplasia_ossificans_progressiva_with_minor_unilateral_hallux_anomaly_in_a_sporadic_case_from_Northern_Tanzania_with_the_common_ACVR1c_617G>A_mutation_ L2 - https://www.panafrican-med-journal.com/content/article/22/299/full/ DB - PRIME DP - Unbound Medicine ER -