Fibrodysplasia Ossificans Progressiva (FOP)

Kaplan, Frederick S.; Smith, Robina M.

doi:10.1359/jbmr.1997.12.5.855

Cited by 24 publications

(21 citation statements)

References 3 publications

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“…To achieve early diagnosis before the flare-ups of ectopic ossification, great toe abnormalities and a history of migrating pre-osseous soft tissue mass on the scalp, neck or back during infancy or early childhood may be informative (11, 13). In particular, great toe abnormality is one of the most stringent and unambiguous features of FOP patients, and usually presents as short, malformed great toes with or without valgus deviation (6).…”

Section: Discussionmentioning

confidence: 99%

ACVR1 Gene Mutation in Sporadic Korean Patients with Fibrodysplasia Ossificans Progressiva

et al. 2009

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Fibrodysplasia ossificans progressiva (FOP; OMIM 135100) is a rare but extremely disabling genetic disorder of the skeletal system, and is characterized by the progressive development of ectopic ossification of skeletal muscles and subsequent joint ankylosis. The c.617G>A; p.R206H point mutation in the activin A type I receptor (ACVR1) gene has been reported to be a causative mutation of FOP. In the present study, mutation analysis of the ACVR1 gene was performed in 12 patients diagnosed or suspected to have FOP. All patients tested had a de novo heterozygous point mutation of c.617G>A; p.R206H in ACVR1. Mutation analysis confirmed a diagnosis of FOP in patients with ambiguous features, and thus, could be used for diagnostic purposes. Early confirmation through mutation analysis would allow medical professionals to advise on the avoidance of provoking events to delay catastrophic flare-ups of ectopic ossifications.

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Section: Discussionmentioning

confidence: 99%

ACVR1 Gene Mutation in Sporadic Korean Patients with Fibrodysplasia Ossificans Progressiva

et al. 2009

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“…Fibrodysplasia ossificans progressiva (FOP; OMIM 135100) is a rare genetic disorder with autosomal dominant transmission (Kaplan et al 2002). FOP is the most severe disorder of heterotopic ossification and results in the postnatal formation of an ectopic skeleton (Cohen et al 1993;Kaplan et al 1993Kaplan et al , 2004.…”

Section: Introductionmentioning

confidence: 99%

The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva

et al. 2007

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Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of skeletal malformations and presents progressive extra-skeletal ossification. The 617G>A (R206H) mutation in the activin receptor type IA (ACVR1) gene has been identified in all examined individuals with FOP of various ethnic groups, including Caucasian and Chinese descents. Here, we examined three Japanese patients with FOP for ACVR1 mutations. We identified the 617G>A mutation in all three patients. Our results suggest that the mutation in the ACVR1 gene is common and recurrent in the global population.

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“…La osificación heterotópica progresa en forma temporal y anatómicamente similar al desarrollo óseo embrionario; comienza por la región axial, dorsal y craneal y evoluciona en forma apendicular y centrífuga. [4][5][6] Fusiones vertebrales, anquilosis articular a nivel témporo-mandibular y una progresiva insuficiencia ventilatoria por osificación de la pared torácica son manifestaciones más avanzadas de la enfermedad. 7 Los estudios analíticos de laboratorio no arrojan habitualmente resultados patológicos y los estudios radiológicos demuestran la presencia de trastornos articulares, deformaciones y masas óseas heterotópicas.…”

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Fibrodisplasia osificante progresiva: Informe de un caso

Rossi

2012

Arch Argent Pediat

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Presentación de casos clínicos RESUMENLa fibrodisplasia osificante progresiva es una rara entidad genética caracterizada por la proliferación de tejido fibrótico y con tendencia a la calcificación que afecta los tejidos blandos del organismo, principalmente tras traumatismos, incluso mí-nimos. La anquilosis articular y la insuficiencia respiratoria restrictiva pueden observarse en los casos más extremos de la enfermedad. Dada su rareza, el diagnóstico suele ser tardío y, en muchas ocasiones, acciones iatrogénicas, como la toma de biopsias, empeoran el cuadro clínico. Existen pocos informes mundiales de niños en los cuales se diagnostique la enfermedad en el período neonatal. El presente caso hace referencia a un niño nacido de una madre con fibrodisplasia osificante progresiva con estigmas de la enfermedad al nacimiento. La presencia de hallux bilaterales inusualmente grandes y deformes, acompañados generalmente de un cuello corto y rígido, pueden orientar al diagnóstico. Palabras clave: fibrodisplasia osificante progresiva, recién nacido, trastornos genéticos.

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Fibrodysplasia Ossificans Progressiva (FOP)

Cited by 24 publications

References 3 publications

ACVR1 Gene Mutation in Sporadic Korean Patients with Fibrodysplasia Ossificans Progressiva

ACVR1 Gene Mutation in Sporadic Korean Patients with Fibrodysplasia Ossificans Progressiva

The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva

Fibrodisplasia osificante progresiva: Informe de un caso

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