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

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

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

Afiliación

Saleh M; Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 2240, Moshi, Tanzania.
Commandeur J; 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.
Bocciardi R; 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.
Kinabo G; Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 2240, Moshi, Tanzania.
Hamel B; Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

Pan Afr Med J ; 22: 299, 2015.

Article en En | MEDLINE | ID: mdl-26966495

RESUMEN

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.

Asunto(s)

Receptores de Activinas Tipo I/genética; Hallux/anomalías; Miositis Osificante/diagnóstico; Niño; Femenino; Humanos; Mutación; Miositis Osificante/genética; Miositis Osificante/patología; Tanzanía

Palabras clave

Fibrodysplasia ossificans progressiva; hallux valgus; heterotopic ossification; recurrent ACVR1 mutation

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hallux / Receptores de Activinas Tipo I / Miositis Osificante Límite: Child / Female / Humans País/Región como asunto: Africa Idioma: En Revista: Pan Afr Med J Año: 2015 Tipo del documento: Article País de afiliación: Tanzania Pais de publicación: Uganda

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google