Características Clínicas E Padrão De Fraturas No Momento Do Diagnóstico De Osteogênese Imperfeita Em Crianças

Brizola, Evelise; Zambrano, Marina Bauer; Pinheiro, Bruna de Souza; Vanz, Ana Paula; Félix, Têmis Maria

doi:10.1590/1984-0462/;2017;35;2;00001

Cited by 14 publications

(7 citation statements)

References 28 publications

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“…The percentage of patients with blue sclera (87%) aligns with the proportions observed in previous studies (e.g. 82%, 93%, 90%, and 80% of patients in Swedish, Brazilian, Taiwanese, and Vietnamese cohorts, respectively) (Lin et al, 2015; Lindahl et al, 2015; Binh et al, 2017; Brizola et al, 2017).…”

Section: Discussionsupporting

confidence: 89%

“…The proportion of patients suffering from DI (55%) was higher than in Swedish (25%) and Brazilian (27%) OI cohorts, but similar to the proportions in Taiwanese (44%) and Vietnamese (61%) OI populations (Lin et al, 2015;Lindahl et al, 2015;Binh et al, 2017; Brizola et al, 2017). The percentage of patients with blue sclera (87%) aligns with the proportions observed in previous studies (e.g.…”

Section: Discussionsupporting

confidence: 58%

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COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients

et al. 2019

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Osteogenesis imperfecta (OI) is a hereditary bone disorder caused by defects of type I collagen. Although up to 90% of patients harbor pathogenic variants in the COL1A1/2 gene, which codes for collagen α1/2 chains, the spectrum of OI genotypes may differ between populations, and there is academic controversy around OI genotype-phenotype correlations. In the current study, 94 Ukrainian OI families were interviewed. Clinical and genealogical information was collected from patients in spoken form, and their phenotypes were described. To identify the spectrum of collagen I pathogenic variants, COL1A1/2 mutational analysis with Sanger sequencing was performed on the youngest affected individual of every family. Of the 143 patients investigated, 67 (46.85%) had type I OI, 24 (16.78%) had type III, 49 (34.27%) had type IV, and III (2.10%) had type V. The mean number of fractures suffered per patient per year was 1.32 ± 2.88 (type I 0.50 ± 0.43; type III 3.51 ± 6.18; type IV 1.44 ± 1.77; and type 5 0.77 ± 0.23). 87.23% of patients had skeletal deformations of different severity. Blue sclera, dentinogenesis imperfecta, and hearing loss were present in 87%, 55%, and 22% of patients, respectively. COL1A1/2 pathogenic variants were harbored by 60 patients (63.83%). 27 pathogenic variants are described herein for the first time. The majority of the pathogenic variants were located in the COL1A1 gene (76.19%). Half (49.21%) of the pathogenic variants were represented by structural variants. OI phenotype severity was highly correlated with type of collagen I defect. The current article presents an analysis of the clinical manifestations and COL1A1/2 mutational spectrum of 94 Ukrainian OI families with 27 novel COL1A1/2 pathogenic variants. It is hoped that this data and its analysis will contribute toward the increased understanding of the phenotype development and genetics of the disorder.

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Section: Discussionsupporting

confidence: 89%

Section: Discussionsupporting

confidence: 58%

COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients

et al. 2019

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“…There is known association of OI with congenital cataracts (22). The diagnosis is most commonly made at birth, but in the diagnosis of milder forms such as OI type I, can be delayed well past age 4 years (23).…”

Section: Oi In Infancy and Childhoodmentioning

confidence: 99%

Clinical Manifestations and Medical Imaging of Osteogenesis Imperfecta: Fetal Through Adulthood

Weaver

Revels

Elifritz

et al. 2021

ama

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<p>The aim of this paper is to describe the varying clinical and imaging manifestations of Osteogenesis Imperfecta (OI) in the fetus, the child, and the adult. OI is a genetic disorder with mutation of Type 1 and non-type 1 collagen genes that results in disruption of multiple collagen based organ systems, most notably bones, often leading to “brittle bones”. Additional features such as blue sclera, dentinogenesis imperfecta, joint and ligamentous hyperlaxity, hearing loss and cardiac defects may be present. Currently, there are at least 30 recognized genetic forms of OI. Given the multiple genes involved, variable genetic inheritance, and the wide range in phenotype, diagnosis can be challenging. While OI may sometimes be diagnosed in the fetus, patients with mild forms of OI may be diagnosed in childhood or even in adulthood. Imaging, including ultrasound, radiography, computed tomography, and magnetic resonance imaging, plays an important role in the diagnoses of OI in the fetus, the child, and the adult. Imaging is also crucial in identifying the many multisystem manifestations of OI. In particular, imaging can help differentiate manifestations of OI from injuries sustained in non-accidental trauma. Age, severity and manner of presentation of OI vary broadly depending on the specific genetic mutation involved, mode of inheritance, and age of the patient. Successful diagnosis of OI hinges on a detailed knowledge of the variable presentation and complications that may be encountered with this disease. Conclusion. In conclusion, OI comprises a heterogeneous group of genetic disorders responsible for bone fragility and additional connective tissue disorders, which can result in specific clinical and imaging findings in the fetus, the child, and the adult.</p>

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“…A osteogênese imperfeita (OI), também conhecida como doença dos ossos de vidro ou ossos de cristal, caracteriza-se por um distúrbio genético e hereditário que acomete a matriz do tecido conjuntivo, comprometendo a formação de colágeno tipo I. Essa alteração impacta principalmente no tecido ósseo, afetando sua estrutura e acarretando, ordinariamente, a fragilidade desse tecido, tornando-o suscetível a deformidades e fraturas de repetição 1 .…”

Section: Introductionunclassified

“…A doença dos ossos de vidro foi classificada em vários tipos (I a VIII) de acordo com as características clínicas e os genes responsáveis, uma vez que apresenta heterogeneidade genotípica e fenotípica. De modo geral, os sintomas deste distúrbio estão associados à osteopenia, alterações dentárias, escleras azuis e hipermobilidade articular gerada pela diminuição da espessura ligamentar 1,2 .…”

Section: Introductionunclassified

Associação entre fraturas e quedas recorrentes, sintomatologia e orientação em saúde: ossos de vidro

Teixeira¹,

Magalhães²,

Brito³

et al. 2022

GANJ

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RELATO DE EXPERIÊNCIAAssociação entre fraturas e quedas recorrentes, sintomatologia e orientação em saúde: ossos de vidro Association between fractures and recurrent falls, symptoms and health orientation: glass bones Asociación entre fracturas y caídas recurrentes, síntomas y orientación de salud: huesos de vidrio Resumo A osteogênese imperfeita é uma doença hereditária, rara, caracterizada pela deficiência na produção de colágeno tipo I que interfere no tecido conjuntivo, culminando em fraturas recorrentes a mínimos traumas devido à fragilidade óssea. Na maioria dos casos, a doença resulta de mutações nos genes COL1A1 e COL1A2, responsáveis por codificar a cadeia de colágeno tipo I. Trata-se de um estudo descritivo, de abordagem qualitativa, do tipo relato de experiência, com atividades desenvolvidas durante a aula prática da matéria de Semiologia II, em um hospital da cidade de Caratinga-MG, retratando o atendimento médico prestado a um paciente com osteogênese imperfeita. Atendeu-se assim às etapas: coleta de dados durante anamnese, exame físico e consulta ao prontuário. Refere-se a um paciente sexo masculino, 65 anos, lavrador, com diagnóstico da doença, internado por fratura de membro inferior direito na porção da diáfise do fêmur, totalmente desviada. Em suma, o presente estudo tem como objetivo contribuir na divulgação de conhecimento sobre a osteogênese imperfeita, frente à escassez de publicações e estudos científicos perante tal enfermidade, explorando a história clínica e sintomatológica de um paciente com osteogênese imperfeita, salientando as condutas e orientações necessárias para um bom prognóstico.

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Características Clínicas E Padrão De Fraturas No Momento Do Diagnóstico De Osteogênese Imperfeita Em Crianças

Cited by 14 publications

References 28 publications

COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients

COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients

Clinical Manifestations and Medical Imaging of Osteogenesis Imperfecta: Fetal Through Adulthood

Associação entre fraturas e quedas recorrentes, sintomatologia e orientação em saúde: ossos de vidro

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