A osteogênese imperfeita (OI) compreende um grupo heterogêneo de doenças genéticas caracterizadas por aumento da fragilidade óssea, baixa massa óssea e suscetibilidade a fraturas ósseas com gravidade variável.
Introdução
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A osteogênese imperfeita (OI) é um grupo de distúrbios genéticos que afetam principalmente os ossos. O termo “osteogênese imperfeita” significa formação óssea imperfeita. Pessoas com essa condição têm ossos que se quebram (fratura) facilmente, muitas vezes a partir de trauma leve ou sem causa aparente. Fraturas múltiplas são comuns e, em casos graves, podem ocorrer mesmo antes do nascimento. Casos mais leves podem envolver apenas algumas fraturas ao longo da vida da pessoa.
Existem pelo menos 19 formas reconhecidas de osteogênese imperfeita, designadas como tipo I até tipo XIX. Vários tipos são diferenciados pelos seus sinais e sintomas, embora suas características se sobreponham. Cada vez mais, causas genéticas são usadas para definir formas mais raras de osteogênese imperfeita. O tipo I (também conhecido como osteogênese imperfeita clássica não deformante com escleras azuis) é a forma mais leve de osteogênese imperfeita. O tipo II (também conhecido como osteogênese imperfeita letal perinatal) é a mais grave. Outros tipos desta condição, incluindo os tipos III (osteogênese imperfeita progressivamente deformante) e IV (osteogênese imperfeita variável comum com escleras normais), apresentam sinais e sintomas que ficam em algum ponto entre esses dois extremos.
As formas mais leves de osteogênese imperfeita, incluindo o tipo I, são caracterizadas por fraturas ósseas durante a infância e adolescência que frequentemente resultam de trauma menor, como quedas ao aprender a andar. As fraturas ocorrem com menos frequência na idade adulta. Pessoas com formas leves da condição tipicamente apresentam uma tonalidade azul ou cinza na parte do olho que normalmente é branca (a esclera) e cerca de metade desenvolve perda auditiva na idade adulta. Ao contrário de indivíduos mais gravemente afetados, pessoas com tipo I geralmente têm altura normal ou quase normal.
Outros tipos de osteogênese imperfeita são mais graves, causando fraturas ósseas frequentes que estão presentes ao nascer e resultam de pouco ou nenhum trauma. Características adicionais desses tipos podem incluir escleras azuis nos olhos, baixa estatura, curvatura da coluna vertebral (escoliose), deformidades articulares (contraturas), perda auditiva, problemas respiratórios e um distúrbio do desenvolvimento dentário chamado dentinogênese imperfeita. A mobilidade pode ser reduzida nas pessoas afetadas, e algumas podem usar um andador ou cadeira de rodas. As formas mais graves de osteogênese imperfeita, particularmente o tipo II, podem incluir uma caixa torácica anormalmente pequena e frágil e pulmões subdesenvolvidos. Bebês com essas anomalias podem ter problemas respiratórios que ameaçam a vida e podem morrer pouco depois do nascimento.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoA osteogênese imperfeita (OI) compreende um grupo heterogêneo de doenças genéticas caracterizadas por aumento da fragilidade óssea, baixa massa óssea e suscetibilidade a fraturas ósseas com gravidade variável.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 233 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 637 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
41 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, X-linked recessive.
Curadoria gene-doença
fontes oficiaisOsteogenesis imperfecta 6
A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI6 is a severe, autosomal recessive form compatible with OI type III in the Sillence classification.
Osteoporosis
A systemic skeletal disorder characterized by decreased bone mass and deterioration of bone microarchitecture without alteration in the composition of bone. The result is fragile bones and an increased risk of fractures, even after minimal trauma. Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs.
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
An autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression. Other features may include hypodontia or oligodontia and hypogonadotropic hypogonadism. There is considerable inter- and intrafamilial variability.
Osteogenesis imperfecta 21
An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI21 is a progressively deforming form characterized by multiple fractures appearing at birth or early childhood.
Osteogenesis imperfecta 14
An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI14 is characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years.
Osteogenesis imperfecta 5
An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI5 patients manifest moderate to severe bone fragility, calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation.
Calvarial doughnut lesions with bone fragility
A rare autosomal dominant bone disease characterized by low bone density, distinctive X-ray translucencies of the skull, multiple fractures, elevated serum alkaline phosphatase, and dental caries. Patients present with childhood onset of primary osteoporosis and typical sclerotic doughnut-shaped lesions in the cranial bones.
Bruck syndrome 2
An autosomal recessive disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia. It is distinguished from osteogenesis imperfecta by the absence of hearing loss and dentinogenesis imperfecta, and by the presence of clubfoot and congenital joint limitations.
Cutis laxa, autosomal recessive, 2B
A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Patients do not manifest metabolic abnormalities.
Gnathodiaphyseal dysplasia
Rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients experience frequent bone fractures caused by trivial accidents in childhood; however the fractures heal normally without bone deformity. The jaw lesions replace the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. Patients also have a propensity for jaw infection and often suffer from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and exposure of the lesions into the oral cavity.
Geroderma osteodysplasticum
A rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation.
Spondyloocular syndrome
A syndrome characterized by cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional short trunk, osteoporosis, immobile spine with thoracic kyphosis and reduced lumbal lordosis.
Short stature, optic nerve atrophy, and Pelger-Huet anomaly
An autosomal recessive syndrome characterized by severe postnatal growth retardation, facial dysmorphism with senile face, small hands and feet, normal intelligence, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly), and optic atrophy with loss of visual acuity and color vision.
Ehlers-Danlos syndrome, arthrochalasia type, 2
A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSARTH2 is an autosomal dominant condition characterized by frequent congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement.
Type 1 diabetes mellitus 19
A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Osteogenesis imperfecta 20
An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI20 is a progressive deforming form characterized by osteopenia, skeletal deformity, healed fractures, and newly-acquired fractures. Death due to respiratory failure can occur in some patients.
Osteogenesis imperfecta 18
An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI18 is a severe form characterized by congenital bowing of the lower limb, wormian bones, blue sclerae, vertebral collapses and multiple fractures in the first years of life.
Osteogenesis imperfecta 13
An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI13 is characterized by normal teeth, faint blue sclerae, severe growth deficiency, severe bone deformity, and recurrent fractures affecting both upper and lower limbs.
Osteogenesis imperfecta 11
A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI11 is an autosomal recessive form.
Nephrolithiasis/osteoporosis, hypophosphatemic, 2
A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis.
Cole-Carpenter syndrome 2
A form of Cole-Carpenter syndrome, a disorder characterized by features of osteogenesis imperfecta such as bone deformities and severe bone fragility with frequent fractures, in association with craniosynostosis, ocular proptosis, hydrocephalus, growth failure and distinctive facial features. Craniofacial findings include marked frontal bossing, midface hypoplasia, and micrognathia. Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP2 inheritance is autosomal recessive.
Cole-Carpenter syndrome 1
A form of Cole-Carpenter syndrome, a disorder characterized by features of osteogenesis imperfecta such as bone deformities and severe bone fragility with frequent fractures, in association with craniosynostosis, ocular proptosis, hydrocephalus, growth failure and distinctive facial features. Craniofacial findings include marked frontal bossing, midface hypoplasia, and micrognathia. Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP1 inheritance is autosomal dominant.
Ehlers-Danlos syndrome, spondylodysplastic type, 1
A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD1 is an autosomal recessive form characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic features of Ehlers-Danlos syndrome.
Osteogenesis imperfecta 10
A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI10 is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclerae.
Cutis laxa, autosomal recessive, 2A
A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases.
Vitreoretinopathy, exudative 1
An autosomal dominant disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. In many ways the disease resembles retinopathy of prematurity but there is no evidence of prematurity or small birth weight in the patient history.
Osteogenesis imperfecta 23
An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI23 is a mild form characterized by osteopenia with or without recurrent fractures, platyspondyly, short and bowed long bones, and widened metaphyses. Platyspondyly and metaphyseal enlargement is present in infancy but resolve in middle childhood.
Osteogenesis imperfecta 12
A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI12 is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, delayed teeth eruption, no dentinogenesis imperfecta, normal hearing, and white sclerae.
Osteogenesis imperfecta 9
A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI9 is a severe autosomal recessive form of the disorder.
Caffey disease
An autosomal dominant disorder characterized by an infantile episode of massive subperiosteal new bone formation that typically involves the diaphyses of the long bones, mandible, and clavicles. The involved bones may also appear inflamed, with painful swelling and systemic fever often accompanying the illness. The bone changes usually begin before 5 months of age and resolve before 2 years of age.
Osteogenesis imperfecta 17
An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae.
Osteogenesis imperfecta 16
An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI16 is a severe form.
Osteogenesis imperfecta 8
A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI8 is characterized by disproportionate short stature, shortening of the long bones, white sclerae, a round face and a short barrel-shaped chest.
Osteogenesis imperfecta 7
A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI7 is an autosomal recessive, severe form. Multiple fractures are present at birth and patients have short stature, short humeri and femora, coxa vara, and white sclera. Dentinogenesis imperfecta is absent. Death can occur in the perinatal period due to secondary respiratory insufficiency.
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis.
Singleton-Merten syndrome 2
A form of Singleton-Merten syndrome, an autosomal dominant disorder characterized by marked aortic calcification, dental anomalies, osteopenia, acro-osteolysis, and to a lesser extent glaucoma, psoriasis, muscle weakness, and joint laxity. Additional clinical manifestations include particular facial characteristics and abnormal joint and muscle ligaments. SGMRT2 is an atypical form characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies.
Osteogenesis imperfecta 22
An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI22 is a severe form of the disease.
Osteoporosis
A systemic skeletal disorder characterized by decreased bone mass and deterioration of bone microarchitecture without alteration in the composition of bone. The result is fragile bones and an increased risk of fractures, even after minimal trauma. Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs.
IFAP syndrome 1, with or without Bresheck syndrome
An X-linked syndrome characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree. Histopathologically, the epidermal granular layer is generally well-preserved or thickened at the infundibulum. Hair follicles are poorly developed and tend to be surrounded by an inflammatory infiltrate. A subgroup of patients is described with lamellar rather than follicular ichthyosis. Non-consistent features may include growth and psychomotor retardation, aganglionic megacolon, seizures and nail dystrophy.
Medicamentos e terapias
Mecanismo: Estrogen receptor beta modulator
Mecanismo: Estrogen receptor agonist
Mecanismo: Tumor necrosis factor ligand superfamily member 11 inhibitor
Mecanismo: Estrogen receptor alpha agonist
Mecanismo: Farnesyl diphosphate synthase inhibitor
Mecanismo: Sclerostin inhibitor
Mecanismo: Farnesyl diphosphate synthase inhibitor
Mecanismo: Calcitonin receptor agonist
Mecanismo: Farnesyl diphosphate synthase inhibitor
Mecanismo: Parathyroid hormone receptor agonist
Variantes genéticas (ClinVar)
425 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 7.473 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
106 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Osteogenesis imperfecta
Centros de Referência SUS
24 centros habilitados pelo SUS para Osteogenesis imperfecta
Centros para Osteogenesis imperfecta
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 2.471
Mechanical characterization of Col1a1 +/- osteogenesis imperfecta bone revealed altered mechanical stiffness heterogeneity across scales.
This study presents a novel integrated multiscale approach that combines whole-bone strain mapping, nanoscale mechanical testing, and compositional profiling to reveal how structural changes across scales impair bone quality in osteogenesis imperfecta (OI). OI is a genetic disorder caused by mutations in type I collagen that leads to fragile bones. Using femurs from male Col1a1+/- haploinsufficient OI (type I) mice, we examined how mechanics relate to structural and compositional changes. The results indicate that OI bone exhibits increased heterogeneity in mechanical properties and lacks the characteristic alternating soft and stiff lamellae that are critical for absorbing fracture energy in healthy bone. While previous studies have investigated OI biomechanics, few have integrated framework spanning organ-, tissue-, and nanoscale levels. Our results underscore the importance of restoring the hierarchical bone architecture and suggest a need for therapies that target bone quality, not just bone mass, to effectively mitigate fracture risk in OI.
Addressing the unmet challenge of pain in rare bone diseases: new insights from the RUDY UK registry.
Pain is a common symptom in many rare bone disorders, often linked to depression and a substantial decline in quality of life. However, there is little information on the quality of the pain which may provide insights into pain mechanisms. This study aimed to describe and compare the frequency and characteristics of self-reported pain in adults with Fibrous Dysplasia of Bone/McCune-Albright Syndrome (FD/MAS), Osteogenesis Imperfecta (OI), and X-linked Hypophosphatemia (XLH). A cross-sectional study was conducted using the online UK RUDY registry. Adults with self -reported FD/MAS, OI, and XLH who completed the painDETECT questionnaire (PD-Q) were included. Pain prevalence and phenotypes were assessed using baseline PD-Q responses which were also mapped to a modified widespread pain index as a measure of generalized pain. Descriptive analyses were performed using R®. A total of 281 adults completed the baseline PD-Q (94 FD/MAS, 94 OI, and 93 XLH). Among these, 86% of patients currently experienced pain and 47% reported severe strongest pain in the past four weeks, with no significant differences between conditions. Pain prevalence and phenotype were similar across diseases, though pain sites differed. Neuropathic-like pain and female sex were significantly associated with poorer pain outcomes, including higher pain prevalence and intensity (p < 0.05). Generalized pain (18%) was significantly associated with moderate to severe anxiety (p = 0.03), depression (p < 0.001) and sleep impairment (p < 0.001). Despite distinct pathophysiological mechanisms, pain distribution appears similar across these bone diseases, suggesting a major role for non-skeletal factors. Generalized pain was frequent and associated with anxiety, depression, and sleep disturbances, suggesting nociplastic features maybe a significant driver of pain in adults with rare bone diseases. The online version contains supplementary material available at 10.1186/s13023-025-04167-4.
A New Perspective on Osteogenesis Imperfecta: From Cellular Mechanisms to the Systemic Impact of Collagen Dysfunction.
Osteogenesis imperfecta (OI) is a rare genetic disease caused by mutations in collagen type I, leading to defective protein folding and an impaired extracellular matrix structure and remodelling. Beyond skeletal fragility, these molecular defects trigger a network of intracellular stress responses with multiorgan implications: the accumulation of misfolded collagen can induce persistent endoplasmic reticulum stress, which can in turn compromise mitochondrial function and autophagy or lead to cell death activation, and it can even promote widespread redox imbalance and inflammation. The interplay between intracellular stress, widespread oxidative damage and inflammation not only underlies cellular dysfunction but also the multisystemic manifestations of osteogenesis imperfecta. Targeting these interconnected pathways may result in new insights for a better understanding of OI and possibly offer novel therapeutic strategies designed to restore proteostasis and improve cell homeostasis and overall patient outcomes, highlighting the need for an integrated understanding of the cellular and molecular mechanisms involved in the pathogenesis of this disease and their translation into patient-centred therapeutic interventions.
Oral health-related quality of life in patients with osteogenesis imperfecta in Taiwan.
Osteogenesis imperfecta (OI) is a rare genetic disorder that affects bone and dental structures, often reducing oral health-related quality of life (OHRQoL). Maintaining OHRQoL in individuals with OI depends greatly on their dental conditions. Thus, this study identified key dental factors associated with OHRQoL in this population. Thirty-seven patients with OI participated in this cross-sectional study. Data were collected using structured questionnaires on sociodemographic characteristics, oral habits, self-perceived oral health, and OHRQoL. Clinical examinations were performed to evaluate dental status. Associations between dental variables and OHRQoL were analyzed using the Mann-Whitney U test and Kruskal-Wallis test. Multiple logistic regression analysis was used to identify the significant predictors of poor OHRQoL. Multiple logistic regression analysis revealed that the number of posterior functional tooth units (P-FTUs) was the only significant dental predictor of OHRQoL. A higher P-FTU count was significantly associated with better OHRQoL scores. An adequate number of P-FTUs is essential for maintaining OHRQoL in patients with OI. In addition to retaining natural teeth or fixed prostheses, ensuring proper distribution and functional occlusion is critical. Clinicians should prioritize treatment strategies that preserve posterior occlusion and provide prosthetic rehabilitation when required to support optimal oral function and quality of life.
Seropositive rheumatoid arthritis in osteogenesis imperfecta type XI (FKBP10 mutation): first case report and literature review.
Osteogenesis imperfecta (OI) is a rare genetic disorder primarily caused by mutations in genes involved in type I collagen production. We report a 27-year-old female with genetically confirmed OI type XI (OI-XI) who experienced a delayed diagnosis of seropositive rheumatoid arthritis (RA), resulting in irreversible deformities. The patient had multiple congenital contractures and became wheelchair-dependent in early childhood. She received only one course of bone protection therapy in her lifetime. Two years prior to presentation, she developed bilateral hand pain, stiffness, and progressive deformities. The diagnosis of RA was confirmed based on clinical features, imaging, and high titers of anti-cyclic citrullinated peptide (anti-CCP) antibodies. Genetic analysis revealed a homozygous FKBP10 mutation (c.391 + 4 A > T), confirming OI-XI. Treatment with methotrexate, folic acid, and vitamin D led to symptom improvement and stabilization of deformities. This is the first reported case of RA in a patient with genetically confirmed OI-XI. The case underscores the importance of early detection and treatment of RA in individuals with OI to prevent irreversible joint damage. Not applicable.
Publicações recentes
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Medication-related osteonecrosis of the jaw in an adult with osteogenesis imperfecta: a case report.
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NeonatologyMechanical characterization of Col1a1 +/- osteogenesis imperfecta bone revealed altered mechanical stiffness heterogeneity across scales.
Cell biomaterialsThe Clinical Utility of Whole-Exome Sequencing in the Prenatal Diagnosis of Fetal Skeletal Dysplasia.
International journal of women's healthEvaluation of Lung Disease in Adults with Osteogenesis Imperfecta: A Cross-Sectional, Multi-Center Study.
ChestPosterior spinal fusion with pedicle screw-based constructs in osteogenesis imperfecta: a systematic review of surgical and radiographic outcomes.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietyShould exome sequencing Replace Chromosomal Microarray Analysis in Suspected Skeletal Dysplasias? Lessons from a Case of Osteogenesis Imperfecta.
Fetal diagnosis and therapyElevated periostin level in serum of adults with Osteogenesis Imperfecta is associated with disease severity.
The Journal of clinical endocrinology and metabolismEvaluation of Fracture and Osteotomy Union in the Setting of Osteogenesis Imperfecta: Multicenter Reliability of the Modified Radiographic Union Score for Tibial Fractures (RUST).
Journal of pediatric orthopedicsLung scRNA-seq reveals chronic inflammation and emphysemous phenotype in mice with osteogenesis imperfecta.
Frontiers in geneticsDeciduous pulp stem cell-derived extracellular vesicles stimulate the proliferation of cartilage progenitor cells via extracellular signal-regulated protein kinase 1/2 activation.
Scientific reportsJournal of Bone and Mineral Research 40th anniversary celebration: the second decade (part 2).
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchDissecting primary versus secondary effects of osteogenesis imperfecta on abnormal lung development and function.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchIdentification and functional characterization of a novel pathogenic COL1A1 splicing variant in a Chinese family with osteogenesis imperfecta.
Frontiers in geneticsA radiological case series of three siblings with osteogenesis imperfecta and shared paternal inheritance.
Radiology case reportsEvolution and outcomes of telescoping intramedullary rods in pediatric bone fragility disorders: A systematic review.
Journal of children's orthopaedicsCo-Occurrence of Osteogenesis Imperfecta Type III and Chronic Abruption-Oligohydramnios Sequence: A Case Report Suggesting a Possible Role of Type I Collagen Fragility.
The journal of obstetrics and gynaecology researchTelescoping rodding with adjunctive external fixation or threaded wires in osteogenesis imperfecta: evaluation of outcomes.
Journal of pediatric orthopedics. Part BReport of the favorable pregnancy outcomes in an FKBP10-related Bruck syndrome case and a narrative review of pregnancy in severe osteogenesis imperfecta.
BMC pregnancy and childbirthThe Role of Non-coding RNAs in Connective Tissue Diseases: Diagnostic and Therapeutic Potential of miRNAs, lncRNAs and circRNAs.
Molecular diagnosis & therapyAcute Phase Reaction After First Neridronate Infusion in Children with Osteogenesis Imperfecta: An Analysis Based on Questionnaire Data from 65 Patients.
Paediatric drugsPressure-induced ossicular alterations in the oim mouse model of brittle bone disease do not cause hearing loss.
Hearing researchMagnetically Controlled Intramedullary Compression Nailing for Femoral Nonunion in Osteogenesis Imperfecta: A Case Report.
JBJS case connectorAI-driven multimodal imaging: unveiling hidden cardiac vulnerabilities in osteogenesis imperfecta.
Annals of medicine and surgery (2012)Perioperative Care of an Eleven-Year-Old Child With Osteogenesis Imperfecta Type II During Posterior Spinal Fusion.
Journal of medical casesReclassification of variants of uncertain significance in type I collagen genes: a national reference laboratory experience.
Journal of medical geneticsOsteogenesis Imperfecta with a gross deletion including the COL1A1 gene, induced by Alu-driven microhomology-mediated end joining.
Bone reportsInhibition of FGFR signaling with infigratinib improves linear bone growth in the female Aga2/+ mouse model of osteogenesis imperfecta.
JBMR plusDual intramedullary nailing for lower limb deformities in pediatric osteogenesis imperfecta: Adaptive migration and clinical outcomes in a Vietnamese cohort.
Current problems in surgeryAtypical femoral fractures in a Mexican cohort of children and adolescents with osteogenesis imperfecta. Analysis of trajectories.
Acta ortopedica mexicanaCurrent advances of bone homeostasis imbalance in the cause of hereditary metabolic bone diseases.
EFORT open reviewsOsteogenesis Imperfecta or Non-accidental Trauma? The Diagnostic Dilemma in Pediatric Fractures.
Journal of the Pediatric Orthopaedic Society of North AmericaDevelopment of a large porcine model of osteogenesis imperfecta type I.
Bone reportsThe Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature.
American journal of human biology : the official journal of the Human Biology CouncilIn Individuals with Osteogenesis Imperfecta, Cephalometric Findings Suggest that Bisphosphonate Therapy May Improve Craniofacial Growth.
Calcified tissue internationalMultiexon COL1A2 deletion as a rare mechanism in osteogenesis imperfecta: Case report and literature review.
BoneAddressing the unmet challenge of pain in rare bone diseases: new insights from the RUDY UK registry.
Orphanet journal of rare diseasesA C-Propeptide Variant in COL1A1 Potentially Perturbing Disulfide Bonding in Osteogenesis Imperfecta Type III.
Congenital anomaliesExtendable intramedullary nailing in a child with osteogenesis imperfecta of bilateral femoral fractures: a case report.
Frontiers in surgeryA New Perspective on Osteogenesis Imperfecta: From Cellular Mechanisms to the Systemic Impact of Collagen Dysfunction.
International journal of molecular sciencesAdvancing Obstetric Care: The Role of Targeted Next-Generation Sequencing in Pregnancies with Structurally Normal Fetuses.
Journal of the Chinese Medical Association : JCMAOral health-related quality of life in patients with osteogenesis imperfecta in Taiwan.
Journal of dental sciencesFixation Procedures of The Proximal Third Femur in Patients With Osteogenesis Imperfecta: Location, Location, and High Revision Rates.
Journal of pediatric orthopedicsMissense mutation of BMP1 may cause feline osteogenesis imperfecta without bone deformity.
Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, IncHeritable metabolic bone disorders: a guide to current genetic testing and clinical management for adult endocrinologists.
PathologyModeling rare genetic skeletal disorders with bone organoids: a narrative review.
BoneClinical diagnosis and challenges in management of Osteogenesis Imperfecta in a resource-limited setting - A case report and review of literature.
International journal of surgery case reportsImpact of preoperative halo-gravity traction on radiographic and surgical outcomes following posterior spinal fusion in osteogenesis imperfecta: a comparative study.
Spine deformityPost-translational modifications of collagen type I in osteogenesis imperfecta: Systematic review and meta-analysis.
Bone reportsSeropositive rheumatoid arthritis in osteogenesis imperfecta type XI (FKBP10 mutation): first case report and literature review.
Orphanet journal of rare diseasesScoliosis surgery outcomes in the setting of osteogenesis imperfecta: a scoping systematic review and meta-analysis.
Spine deformityBiologics for bone regeneration: advances in cell, protein, gene, and mRNA therapies.
Bone researchRevision of Cemented Reverse Total Shoulder Arthroplasty with Bone Graft in Osteogenesis Imperfecta: A Case Report.
Journal of orthopaedic case reportsManagement of a Case of Adult Mid-Shaft Femur Fracture in Osteogenesis Imperfecta by Long Proximal Femoral Nail: A Case report.
Journal of orthopaedic case reportsAtypical Fracture From Bisphosphonate Use in Hypophosphatasia With Improved Bone Response to Teriparatide Therapy.
JCEM case reportsRare Variants in the P3H1 Gene in Patients With Osteogenesis Imperfecta of Bashkir Origin From Russia.
Clinical geneticsA rare 5'UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta: a roadmap for RNA therapeutic rescue.
Scientific reportsHistopathological Features in Osteogenesis Imperfecta Type III.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyWormian bones: expanded differential diagnosis and implications for abnormal head shape in infancy.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryCase Report: A case of neonatal osteogenesis imperfecta: navigating critical care and early fracture management through multidisciplinary collaboration.
Frontiers in pediatricsDefying the Odds: Survival in Severe Prenatal Caffey's Disease.
CureusPreviously Unreported TMEM38B Variant in Osteogenesis Imperfecta Type XIV: A Case Report and Systematic Review of the Literature.
International journal of molecular sciencesBoolean Networks with Classic and New Updating Modes Applied to Genetic Regulation in Some Familial Diseases.
International journal of molecular sciencesAssessment of Collagen and Fibroblast Properties via Label-Free Higher Harmonic Generation Microscopy in Three-Dimensional Models of Osteogenesis Imperfecta and Ehlers-Danlos Syndrome.
International journal of molecular sciencesOsteogenesis Imperfecta with Pes Equinovarus: A Rare Combination and a Rare Col1a1 Variant.
Journal of clinical research in pediatric endocrinologySurgical Strategies of Staged Spinal Traction-Fusion for Severe Scoliosis in Osteogenesis Imperfecta Type IV: A Case Report and Literature Review.
International journal of spine surgeryBathrocephaly and Serpentine Fibula as Underrated Features of Osteogenesis Imperfecta Type I: A Case Report.
Molecular syndromologyHarnessing Bone-Liver Crosstalk: A Dual-Action LYTAC Approach for Bone-Specific Accumulation and Liver-Specific Protein Degradation in Bone Disorders.
JACS AuOsteogenesis Imperfecta Type V With Undifferentiated Pleomorphic Sarcoma: A Rare Occurrence.
Pediatric blood & cancerExfoliation of primary dentition in children with Osteogenesis Imperfecta medicated with bisphosphonates.
European journal of paediatric dentistryRetrospective study on the outcomes of Fassier-Duval nailing and osteotomy for the treatment of long bone fractures or deformities in the lower extremities in children with osteogenesis imperfecta.
Frontiers in surgeryA Novel Biallelic Variant in The SERPINH1 Gene in Two Siblings Diagnosed with Osteogenesis Imperfecta Type X: Evidence of Intrafamilial Clinical Variability.
Journal of clinical research in pediatric endocrinologyNovel FKBP10 Mutation in Iranian Patients with Osteogenesis Imperfecta: Insights from Whole-Exome Sequencing to Molecular Dynamics.
Iranian biomedical journalEffect of bisphosphonate treatment on the oim mouse middle ear ossicles' structure, composition and hearing.
BoneMolecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease.
Clinical science (London, England : 1979)Comprehensive evaluation of cochlear implantation in otosclerosis: radiological, technical, and audiological outcomes over five years.
Cochlear implants internationalCraniofacial and whole-skeleton fracture patterns in osteogenesis imperfecta: Findings from a nationwide U.S. insurance claims database.
Bone[Comprehensive considerations for the diagnosis, treatment, and management of osteogenesis imperfecta].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsClinical Outcome of Patients with Osteogenesis Imperfecta on Intravenous Pamidronate Treatment at the Philippine General Hospital from 2010-2018.
Acta medica PhilippinaCombined Treatment with a C-Type Natriuretic Peptide Analog and Bisphosphonate Enhances Bone Growth in Growing Mice with Osteogenesis Imperfecta: A Pilot Study.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchThe Role of Osteoblasts in Phenotypic Variability of Dominant Osteogenesis Imperfecta: Evidence from Patients and Murine Models.
International journal of molecular sciencesPsychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health.
American journal of medical genetics. Part AGenotype-based comparison of bone microstructure in adult patients with classical osteogenesis imperfecta.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USAImpaired SERPINF1 Expression due to c.[-37C>A];[829_831del] Causes Osteogenesis Imperfecta VI.
American journal of medical genetics. Part AMatrix-directed therapy losartan to identify the effect on the bone resorption marker carboxy-terminal crosslink of type I collagen telopeptide (CTX) in older adolescents and adults with osteogenesis imperfecta recruited from secondary care sites: the 'MOI-A' study; a randomised, phase 2/pilot, dose-escalating trial.
BMJ openDiaphragmatic Hernia in a Newborn With COL1A1-Associated Classical Ehlers-Danlos Syndrome.
Case reports in geneticsUse of Analgesics in Osteogenesis Imperfecta in Denmark-A Nationwide Register-based Cohort Study.
Calcified tissue internationalTargeted fetal NGS panel reveals genetic conditions in sonographically normal fetuses: Insights from a large cohort study.
PloS oneTemporal Bone CT Findings in Hajdu-Cheney Syndrome: Case Report with Review of the Literature.
AJNR. American journal of neuroradiologyPregnancy-Related Complications in Osteogenesis Imperfecta.
Obstetrics and gynecologySarcopenia and Muscle Dysfunction in Osteogenesis Imperfecta: Insights from A Pilot Study.
Journal of musculoskeletal & neuronal interactionsThe benefit of diet on paradoxical breathing and sleep in Osteogenesis imperfecta.
Orphanet journal of rare diseasesPre-operative zoledronate is safe for children with medical complexity undergoing posterior spinal fusion for neuromuscular scoliosis.
Spine deformityPain intensity in patients with genetic metabolic bone diseases: an observational study.
BoneClavicular Head Subluxation Resulting in Tracheal Compromise in an Osteogenesis Imperfecta Type III Patient: A Case Report.
CureusSandwich Allograft for Long-Bone Deformity Correction in Bone Dysplasia.
JBJS essential surgical techniquesAssessment of cardiac function by speckle tracking echocardiography in children with osteogenesis imperfecta.
Pediatric researchFabric-elasticity relationships of femoral head trabecular bone are similar in Type 2 diabetes and non-diabetic individuals.
Bone reportsFKBP10 Variants: Differentiation Between Bruck Syndrome Type 1 And Osteogenesıs Imperfecta Type XI.
Journal of clinical research in pediatric endocrinologyAccuracy of dental age estimation methods in children with chromosomal syndromes: A systematic review and network meta-analysis.
Archives of oral biologyCommentary on Quality Improvement Case Series: "Osteogenesis Imperfecta or Non-accidental Trauma".
Journal of the Pediatric Orthopaedic Society of North AmericaBaseline Characteristics of the TOPaZ Study: Randomised Trial of Teriparatide and Zoledronic Acid Compared with Standard Care in Adults with Osteogenesis Imperfecta.
Calcified tissue internationalMesenchymal Stem Cell Transplantation for Osteogenesis Imperfecta Patients: A Systematic Review.
Annals of the New York Academy of SciencesDouble jaw surgery for a patient with Gnathodiaphyseal dysplasia (GDD): A case report and literature review.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryA novel variant of NOTCH2 causes skeletal fragility.
BoneQuantitative assessment of the temporomandibular joints in patients with osteogenesis imperfecta: a CBCT study.
Oral surgery, oral medicine, oral pathology and oral radiologyCochlear implantation in osteogenesis imperfecta: a case series on feasibility, challenges, and outcomes.
Cochlear implants internationalMolecular spectrum of autosomal recessive osteogenesis imperfecta in 93 Italian children with bone fragility: a monocentric experience.
Journal of endocrinological investigationAnesthetic management of children undergoing specialized orthopedic surgeries.
Journal of clinical orthopaedics and traumaNovel Insights From In Silico Analysis of Biallelic ALPL (c.1001G/A and c.571G/A) in Two Mennonite Families Leading to Hypophosphatasia.
CureusMitral Valve Aneurysm With Perforation Resulting in Severe Mitral Regurgitation Secondary to Infective Endocarditis: A Report of a Rare Case.
CureusIdentification of rare genetic variants in familial forms and unrelated cases of bisphosphonates-associated atypical femur fracture.
Joint bone spineHealth-related quality of life in individuals with osteogenesis imperfecta in the United States: a cross-sectional study.
Orphanet journal of rare diseasesAssessment of Bone Density in Osteogenesis Imperfecta in Pediatric and Adolescent Age Group: Can the Metacarpal Index Play a Role?
Indian journal of orthopaedicsPeripheral Nerve Blocks in Patients With Osteogenesis Imperfecta Undergoing Extremity Procedures are Safe and Effective.
Journal of the Pediatric Orthopaedic Society of North AmericaIntersecting Pathologies: COL1A1-Related Syndrome in the Setting of Childhood-Onset Hypopituitarism: Case Report and Literature Review.
Diagnostics (Basel, Switzerland)Genetic and Clinical Spectrum of Osteogenesis Imperfecta in an Egyptian Cohort With a High Rate of Lethal Phenotypes.
Clinical geneticsMedication-Related Impacts on Pediatric Bone Health.
Journal of the Pediatric Orthopaedic Society of North AmericaPilot study to investigate sleep and breathing related complications in children and young people with osteogenesis imperfecta.
BMC musculoskeletal disordersRates and Pattern of Antifracture Drug Use in 6475 Adults and Children With Osteogenesis Imperfecta.
The Journal of clinical endocrinology and metabolismFacilitators and barriers to care among individuals with osteogenesis imperfecta.
Psychology & healthMinimally Invasive Aortic Valve Replacement in Osteogenesis Imperfecta: A Case Report.
Surgical case reportsCRTAP-Related Osteogenesis Imperfecta: Clinical Variability and a Potential Founder Variant in CRTAP.
Molecular syndromologyNew Lens On Congenital Mild Bone Fragility: a Novel Col1a1 Knockout Mouse Model for Osteogenesis Imperfecta Type 1.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchBone microstructural and strength changes over one year in children with osteogenesis imperfecta are comparable to age- and sex-matched healthy controls.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchComprehensive Bibliometric Assessment of the Top 50 Cited Articles on Osteogenesis Imperfecta.
Orthopedic reviewsSomewhere to go: a position paper on addressing gaps in transition care for adults with childhood-onset rare diseases.
Orphanet journal of rare diseasesSubarachnoid hemorrhage secondary to ruptured posterior inferior cerebellar artery aneurysm in a patient with type 3 osteogenesis imperfecta: A case report and topic review.
Surgical neurology internationalInvolvement of patient organisations in research activities: actions taken and lessons learned in a clinical research study for osteogenesis imperfecta.
Orphanet journal of rare diseasesTargeted Gene Sequencing in a Male Adult Diagnosed With X-Linked Osteoporosis Due to a Novel p.(Arg398Profs*2) PLS3 Variant.
JCEM case reportsClinical application of radiofrequency echographic multi-spectrometry (REMS) for diagnosis and follow-up in several rare bone disorders: a case series.
BMC medical imagingSurgical Technique for Revision of the Distally Migrated Fassier-Duval Femoral Rod in Osteogenesis Imperfecta: A Case Report.
Children (Basel, Switzerland)Tips and Tricks for Installation of the SLIM Nail in Osteogenesis Imperfecta with Narrow Medullary Canals: A Surgical Guide with Case Insights.
Children (Basel, Switzerland)The IMPACT Survey: The Humanistic Impact of Caring for an Individual with Osteogenesis Imperfecta.
Advances in therapyCardiac manifestations in children with osteogenesis imperfecta: A single-center observational study.
International journal of cardiologyRING-Box E3 Ligase Target N-Terminal Lysine 55 to Regulate Turnover of Sp7 Protein.
Journal of cellular biochemistryPediatric Scoliosis in Osteogenesis Imperfecta: From Genetic Mechanisms to Therapeutic Strategies.
Orthopaedic surgeryThe IMPACT Survey: The Economic Impact of Caring for an Individual with Osteogenesis Imperfecta.
Advances in therapyAcceptability and Barriers of Exercise in Children With Osteogenesis Imperfecta.
Archives of rehabilitation research and clinical translationA rare case of McCune-Albright syndrome in a young male with hyperthyroidism and hypertrophic scars.
Oxford medical case reportsClinical and Functional Outcomes of Telescoping Intramedullary Nails in Pediatric Osteogenesis Imperfecta: A Multicenter Prospective Study With a One-Year Follow-Up.
CureusUrinary calcium and bone resorption markers during 3 years of denosumab treatment in pediatric osteogenesis imperfecta.
JBMR plusReal-world data of fracture rates and musculoskeletal disorders for patients living with osteogenesis imperfecta.
JBMR plusA pictorial essay of thoracic wall diseases: multiple pathologies in the same anatomical site.
Insights into imagingImage-guided in vivo evaluation and comparison of bone-targeting peptides for therapeutic intervention.
Drug delivery and translational researchNanoscale Structural and Functional Impacts of Disease-Associated Collagen Mutations.
bioRxiv : the preprint server for biologyExome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest Iran.
Clinical geneticsOsteogenesis imperfecta, intellectual disability and recurrent infections in a male with a pathogenic SASH3 variant.
Human genome variationEnhancing Wnt signaling lowers fracture incidence in a severe mouse model of Osteogenesis Imperfecta.
BoneStanford Type B Aortic Dissection in a Patient With Osteogenesis Imperfecta: A Case Report.
Journal of investigative medicine high impact case reportsA qualitative exploration of child, caregiver, and clinician perspectives on mental health in children with osteogenesis imperfecta.
Journal of child health care : for professionals working with children in the hospital and communityHip to Be Rare: The Intersection of Transient Osteoporosis and Osteogenesis Imperfecta.
Current sports medicine reportsClinical Characteristics and Management of Rare Metabolic Bone Diseases: An Audit of the Rare Metabolic Bone Disease Registry of India.
Calcified tissue internationalChallenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review.
World journal of methodologyAddressing surgical challenges in patients with severe form of osteogenesis imperfecta and with prolonged bisphosphonate treatment: intramedullary sclerosis and technical solutions.
International orthopaedicsAnalysis of Orofacial Changes in Children and Adolescents With Mucopolysaccharidosis and Osteogenesis Imperfecta.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationA novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature review.
Human genomicsGenotype-Phenotype Correlation Insights in a Rare Case Presenting with Multiple Osteodysplastic Syndromes.
GenesSerum Osteocalcin in Pediatric Osteogenesis Imperfecta: Impact of Disease Type and Bisphosphonate Therapy.
International journal of molecular sciencesQualitative investigation of school experiences in children with osteogenesis imperfecta.
Children's health care : journal of the Association for the Care of Children's HealthA systematic literature review of the impact and measurement of mobility impairment in rare bone diseases.
Therapeutic advances in musculoskeletal diseaseAssessment of bone mineral density by fractal dimension in OI patients treated with bisphosphonates.
BMC oral healthLC3 and GABARAP independent autophagy of misfolded procollagen in mouse osteoblasts.
AutophagyBasilar invagination in osteogenesis imperfecta-Case report.
Radiology case reportsAnisotropic mechanical properties of pediatric osteogenesis imperfecta bone in three-point bending between disease phenotypes and controls.
Journal of biomechanicsCranial bypass for occlusive carotid dissection in osteogenesis imperfecta: illustrative case.
Journal of neurosurgery. Case lessonsCombined antiresorptive and new anabolic drug approach in osteogenesis imperfecta zebrafish models.
JBMR plusCo-occurrence of Congenital Osteogenesis Imperfecta and Maternal Antiphospholipid Syndrome: A Novel Case Report.
CureusMedial Patellofemoral Ligament Reconstruction in Osteogenesis Imperfecta Using Modified Basket-Weave Technique: A Case Report.
JBJS case connectorApplication of the Gross Motor Function Measure in children with conditions other than cerebral palsy: A systematic review.
Developmental medicine and child neurologyMindful Self-Compassion to Reduce Pain Interference Among Adults with Osteogenesis Imperfecta.
Journal of clinical psychology in medical settingsModerately severe osteogenesis imperfecta-like osteochondrodysplasia associated with heterozygous variants in both COL1A2 and TRPV4.
JBMR plusDemographic and Clinical Profile of Patients with Osteogenesis Imperfecta Hospitalized Due to Coronavirus Disease (COVID)-19: A Case Series of 13 Patients from Brazil.
Healthcare (Basel, Switzerland)Mortality and fracture risk in children with osteogenesis imperfecta: Results from the French nationwide hospital discharge database.
BoneClinical, Biochemical and Radiological Features of LRP5 Gene Variants in Children.
Calcified tissue internationalGene editing for collagen disorders: current advances and future perspectives.
Gene therapyPathological Rupture of the Quadriceps Tendon in a Patient With Osteogenesis Imperfecta With Leg-length Discrepancy: A Case Report.
OrthopedicsA Scoping Review of Trainees With Motor and Sensory Disabilities in Surgical Specialties: Barriers, Representation, and Inclusive Solutions.
Journal of surgical education10-Year follow-up after balloon kyphoplasty in a 11-year-old child with type I osteogenesis imperfecta and T12 fracture.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietyIntramedullary telescopic nailing method applied in cases with osteogenesis imperfecta and our results.
BMC musculoskeletal disordersExpanding the Genotypic and Phenotypic Spectrum of P3H1 Related Osteogenesis Imperfecta.
Calcified tissue internationalLumbar disc herniation in osteogenesis imperfecta associated with a COL1A1 frameshift mutation: A case report and review.
MedicineLimb Length Discrepancy and Osteogenesis Imperfecta: Preventable or Inevitable?
Journal of pediatric orthopedicsUsing the simple locking intramedullary (SLIM) system for bone deformity stabilization: A retrospective cohort study.
Journal of children's orthopaedicsPediatric Bone Fractures: Challenges In Differential Diagnosis Between Child Abuse And Osteogenesis Imperfecta.
Annali di igiene : medicina preventiva e di comunitaNew Immunohistochemical Findings on Amelogenin and Dentin Sialophosphoprotein in Genetic Tooth Diseases.
International dental journalChildren and Adolescents with Mucopolysaccharidosis and Osteogenesis Imperfecta: The Dentistry on the Multiprofessional Team.
Journal of personalized medicineA retrospective study on the prevalence, management, and outcomes of congenital heart diseases in children at Edward Francis small teaching hospital, banjul, the Gambia.
BMC cardiovascular disordersA Systematic Review on the Efficacy of Bisphosphonates on Osteogenesis Imperfecta.
CureusOsteogenesis Imperfecta: A Look into the Cerebellum of the Brtl Murine Model.
Molecular neurobiologyEndoplasmic reticulum stress and autophagy as potential therapeutic targets in SERPINF1 mutation-induced type VI osteogenesis imperfecta.
Life sciencesOsteoclast-independent osteocyte dendrite defects in mice bearing the osteogenesis imperfecta-causing Sp7 R342C mutation.
Bone researchChanges in lean mass and fat mass in children with Osteogenesis Imperfecta.
Journal of clinical densitometry : the official journal of the International Society for Clinical DensitometryA Siglec-15 Antibody Promotes High Quality Bone Formation in Adult Female Mice With Osteogenesis Imperfecta.
Journal of orthopaedic research : official publication of the Orthopaedic Research SocietyHearing function and ossicular deformities and fractures in the oim mouse model of brittle bone disease.
Hearing researchMolecular and Clinical Landscape of Osteogenesis Imperfecta: Unraveling Autosomal Recessive Forms, Therapeutic Outcomes, and Bone Mineral Density in Carriers.
Clinical geneticsMolecular and Clinical Aspects of Osteogenesis Imperfecta Type VI: A Case Series with Novel SERPINF1 Gene Variants.
International journal of molecular sciencesAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Osteogenesis imperfecta e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
A osteogênese imperfeita é causada por alterações genéticas que afetam a estrutura e a síntese do colágeno nos ossos. Pode ser transmitida de forma autossômica dominante, autossômica recessiva ou ligada ao cromossomo X, envolvendo genes como SERPINF1, PLS3 e IFITM5.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Osteogenesis imperfecta. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/osteogenesis-imperfecta
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Osteogenesis imperfecta
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Moléculas estudadas na doença
- fonte: OpenTargets
- Alvos terapêuticos
- fonte: OpenTargets
- Ensaios clínicos
- fonte: ClinicalTrials.gov
