Chin-on-Chest Deformity in Patients with Fibrodysplasia Ossificans Progressiva

Moore, R. W.; Dormans, John P.; Drummond, Denis S.; Shore, Eileen M.; Kaplan, Frederick S.; Auerbach, Joshua D.

doi:10.2106/jbjs.h.00554

Cited by 23 publications

(10 citation statements)

References 23 publications

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“…The outcomes after surgical correction of thoracolumbar spinal deformity and scoliosis were generally poor and resulted in recurrence and progression of the deformity and heterotopic ossifi cation. 77 However, favorable surgical outcomes have been described in 1 case series of patients with FOP and life-threatening chinon-chest cervical spine deformity. 78 Figure 5 shows an FOP patient who developed chin-on-chest cervical spine deformity and required cervical osteotomies and fusion with halo stabilization.…”

Section: Discussionmentioning

confidence: 99%

Review of Cervical Spine Anomalies in Genetic Syndromes

McKay¹,

Alomari²,

Tomlinson³

et al. 2012

Spine

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Section: Discussionmentioning

confidence: 99%

Review of Cervical Spine Anomalies in Genetic Syndromes

McKay¹,

Alomari²,

Tomlinson³

et al. 2012

Spine

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“…[14][15][16] Es explicable que estos pacientes fallezcan como resultado de procesos infecciosos respiratorios, insuficiencia cardiaca, asfixia y desnutrición. 4,17,18 La mutación genética causante de la fibrodisplasia osificante progresiva se ha descrito como una sustitución de un nucleótido único recurrente causando una mutación antisentido en el codón 206 (c.617G>A; R206H) en el dominio de activación de la glicina-serina del receptor del gen que codifica la activina IA (ACVR1), un receptor de proteína morfogenética ósea de tipo 1.…”

Section: Figuraunclassified

Fibrodisplasia osificante progresiva: informe de caso con diagnóstico temprano y propuesta de rehabilitación

Colmenares-Bonilla

González-Sandoval

2017

Acta Pediatr Mex

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101www.actapediatrica.org.mx caso clínico dE intErés EspEcial Acta Pediatr Mex. 2017 mar;38(2):101-107. Fibrodisplasia osificante progresiva: informe de caso con diagnóstico temprano y propuesta de rehabilitación ResumenLa fibrodisplasia osificante progresiva es una alteración genética extremadamente rara; se caracteriza por osificación heterotópica espontánea catastrófica, causada por un traumatismo mínimo y por malformación tipo hallux valgus en 95% de los casos. Su prevalencia es de 1 en 2,000,000 de habitantes. La mayoría de pacientes son mal diagnosticados en etapas tempranas y es frecuente que sean sometidos a pruebas diagnósticas causando discapacidad importante por limitación del movimiento.En la primera década de vida hay episodios de dolor y edema en tejidos blandos, que precede a la osificación; éstos son precipitados por traumatismos mínimos, inyecciones intramusculares o procedimientos quirúrgicos, entre otras muchas causas. Las osificaciones causan dolor crónico, anquilosis articular, restricción de movimiento, infecciones graves, desnutrición y muerte por insuficiencia respiratoria. Generalmente, estos pacientes son sometidos a procedimientos diagnósticos o terapéuticos que agravan su problema.Presentamos el caso de una paciente de 2.6 años de edad, proveniente de una comunidad rural, que fue diagnosticada tempranamente con este padecimiento y se describen propuestas del tratamiento de rehabilitación.PALABRAS CLAVE: fibrodisplasia osificante progresiva, osificación heterotópica, rehabilitación. AbstractFibrodysplasia ossificans progressiva is an extremely rare genetic condition characterized by spontaneous catastrophic heterotopic

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“…Numerous previous reports have described osteotomy techniques for the lumbar spine that are commonly applied in an analogous fashion to the cervical spine, 15,17,36,40 and several of these would be classified within the Grade 2 osteotomy category. These include the Smith-Petersen osteotomy, 54 which involves wide resection of the posterior elements, including the lamina and bilateral facets, and, as initially described, was applied to multiple levels through previously fused facets in upper levels of the lumbar spine.…”

Section: Grade 2: Complete Facet Joint Resection/ponte Osteotomymentioning

confidence: 99%

A standardized nomenclature for cervical spine soft-tissue release and osteotomy for deformity correction

Ames

Smith

Scheer

et al. 2013

SPI

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Object Cervical spine osteotomies are powerful techniques to correct rigid cervical spine deformity. Many variations exist, however, and there is no current standardized system with which to describe and classify cervical osteotomies. This complicates the ability to compare outcomes across procedures and studies. The authors' objective was to establish a universal nomenclature for cervical spine osteotomies to provide a common language among spine surgeons. Methods A proposed nomenclature with 7 anatomical grades of increasing extent of bone/soft tissue resection and destabilization was designed. The highest grade of resection is termed the major osteotomy, and an approach modifier is used to denote the surgical approach(es), including anterior (A), posterior (P), anterior-posterior (AP), posterior-anterior (PA), anterior-posterior-anterior (APA), and posterior-anterior-posterior (PAP). For cases in which multiple grades of osteotomies were performed, the highest grade is termed the major osteotomy, and lower-grade osteotomies are termed minor osteotomies. The nomenclature was evaluated by 11 reviewers through 25 different radiographic clinical cases. The review was performed twice, separated by a minimum 1-week interval. Reliability was assessed using Fleiss kappa coefficients. Results The average intrarater reliability was classified as “almost perfect agreement” for the major osteotomy (0.89 [range 0.60–1.00]) and approach modifier (0.99 [0.95–1.00]); it was classified as “moderate agreement” for the minor osteotomy (0.73 [range 0.41–1.00]). The average interrater reliability for the 2 readings was the following: major osteotomy, 0.87 (“almost perfect agreement”); approach modifier, 0.99 (“almost perfect agreement”); and minor osteotomy, 0.55 (“moderate agreement”). Analysis of only major osteotomy plus approach modifier yielded a classification that was “almost perfect” with an average intrarater reliability of 0.90 (0.63–1.00) and an interrater reliability of 0.88 and 0.86 for the two reviews. Conclusions The proposed cervical spine osteotomy nomenclature provides the surgeon with a simple, standard description of the various cervical osteotomies. The reliability analysis demonstrated that this system is consistent and directly applicable. Future work will evaluate the relationship between this system and health-related quality of life metrics.

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Chin-on-Chest Deformity in Patients with Fibrodysplasia Ossificans Progressiva

Cited by 23 publications

References 23 publications

Review of Cervical Spine Anomalies in Genetic Syndromes

Review of Cervical Spine Anomalies in Genetic Syndromes

Fibrodisplasia osificante progresiva: informe de caso con diagnóstico temprano y propuesta de rehabilitación

A standardized nomenclature for cervical spine soft-tissue release and osteotomy for deformity correction

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