Raras
Buscar doenças, sintomas, genes...
Necrose avascular da cabeça do fêmur, forma familiar
ORPHA:86820CID-10 · M87.8CID-11 · FB82.1DOENÇA RARA

A necrose avascular da cabeça femoral (ANFH) é uma doença gravemente incapacitante caracterizada por dor progressiva na virilha, marcha manca, discrepância no comprimento das pernas, colapso do osso subcondral, limitação da função do quadril e eventual degeneração da articulação do quadril exigindo artroplastia total do quadril.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A necrose avascular da cabeça femoral (ANFH) é uma doença gravemente incapacitante caracterizada por dor progressiva na virilha, marcha manca, discrepância no comprimento das pernas, colapso do osso subcondral, limitação da função do quadril e eventual degeneração da articulação do quadril exigindo artroplastia total do quadril.

Publicações científicas
332 artigos
Último publicado: 2026 Mar 16

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Adult
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: M87.8
Você se identifica com essa condição?
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
8 sintomas
❤️
Coração
1 sintomas

+ 4 sintomas em outras categorias

Características mais comuns

90%prev.
Anormalidade da região do colo ou cabeça femoral
Muito frequente (99-80%)
90%prev.
Dor na virilha
Muito frequente (99-80%)
55%prev.
Movimento limitado do quadril
Frequente (79-30%)
55%prev.
Cabeça femoral achatada
Frequente (79-30%)
55%prev.
Assimetria do membro inferior
Frequente (79-30%)
55%prev.
Osteoartrite do quadril
Frequente (79-30%)
13sintomas
Muito frequente (2)
Frequente (7)
Sem dados (4)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 13 características clínicas mais associadas, ordenadas por frequência.

Anormalidade da região do colo ou cabeça femoralAbnormality of the femoral neck or head region
Muito frequente (99-80%)90%
Dor na virilhaGroin pain
Muito frequente (99-80%)90%
Movimento limitado do quadrilLimited hip movement
Frequente (79-30%)55%
Cabeça femoral achatadaFlattened femoral head
Frequente (79-30%)55%
Assimetria do membro inferiorLower limb asymmetry
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico332PubMed
Últimos 10 anos122publicações
Pico202018 papers
Linha do tempo
2026Hoje · 2026📈 2020Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.

COL2A1Collagen alpha-1(II) chainDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces

LOCALIZAÇÃO

Secreted, extracellular space, extracellular matrix

VIAS BIOLÓGICAS (10)
Integrin cell surface interactionsMET activates PTK2 signalingDevelopmental Lineage of Pancreatic Ductal CellsAssembly of collagen fibrils and other multimeric structuresSignaling by PDGF
MECANISMO DE DOENÇA

Spondyloepiphyseal dysplasia congenital type

Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems.

OUTRAS DOENÇAS (22)
Legg-Calve-Perthes diseasespondylometaphyseal dysplasia, Schmidt typeplatyspondylic dysplasia, Torrance typeKniest dysplasia
HGNC:2200UniProt:P02458
TRPV4Transient receptor potential cation channel subfamily V member 4Disease-causing germline mutation(s) (gain of function) inTolerante
FUNÇÃO

Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity (PubMed:16293632, PubMed:18695040, PubMed:18826956, PubMed:22526352, PubMed:23136043, PubMed:29899501). Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification (PubMed:18695040, PubMed:18826956, PubMed:29899501). Also activated by heat, low pH, citrate and phorbol esters (PubMed:16293632, PubMed:18695040, PubMed:18826956, PubMed:20037586, PubMed:219

LOCALIZAÇÃO

Cell membraneApical cell membraneCell junction, adherens junctionCell projection, ciliumEndoplasmic reticulum

VIAS BIOLÓGICAS (2)
High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cellsTRP channels
MECANISMO DE DOENÇA

Brachyolmia 3

A form of brachyolmia, a clinically and genetically heterogeneous skeletal dysplasia primarily affecting the spine and characterized by a short trunk, short stature, and platyspondyly. BCYM3 is an autosomal dominant form with severe scoliosis with or without kyphosis, and flattened irregular cervical vertebrae.

EXPRESSÃO TECIDUAL(Tecido-específico)
Glândula salivar
28.0 TPM
Esôfago - Mucosa
13.4 TPM
Rim - Córtex
13.3 TPM
Próstata
12.8 TPM
Skin Sun Exposed Lower leg
12.0 TPM
OUTRAS DOENÇAS (11)
spondyloepimetaphyseal dysplasia, Maroteaux typeneuronopathy, distal hereditary motor, autosomal dominant 8scapuloperoneal spinal muscular atrophy, autosomal dominantfamilial digital arthropathy-brachydactyly
HGNC:18083UniProt:Q9HBA0

Variantes genéticas (ClinVar)

1,713 variantes patogênicas registradas no ClinVar.

🧬 TRPV4: NM_021625.5(TRPV4):c.839G>A (p.Gly280Asp) ()
🧬 TRPV4: NM_021625.5(TRPV4):c.87G>C (p.Glu29Asp) ()
🧬 TRPV4: GRCh37/hg19 12q23.1-24.33(chr12:99532287-133777902)x3 ()
🧬 TRPV4: NM_021625.5(TRPV4):c.1963C>T (p.Pro655Ser) ()
🧬 TRPV4: NM_021625.5(TRPV4):c.2458+1G>C ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
2Fase 21
·Pré-clínico4
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Necrose avascular da cabeça do fêmur, forma familiar

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

4 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

0 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
196 papers (10 anos)
#1

Familial Cases of Legg-Calvé-Perthes Disease-Hemostatic and Molecular Markers.

International journal of molecular sciences2026 Feb 26

Legg-Calvé-Perthes disease (LCPD) is a rare disease caused by avascular necrosis of the femoral head. Although its etiology is still not fully understood, evidence suggests that heritable prothrombotic and inflammatory factors, as well as environmental factors, may be implicated in its onset and progress. The objective of this study is to describe the genetic, biochemical, and environmental factors that may be associated with the etiology of LCPD. This study was conducted in three families and included seven related patients with an LCPD diagnosis. We evaluated the following gene alterations using real-time PCR: MTHFR, CBS, COL1A1, COL2A1, PT, FVL, FVIII, FIX, PAI-1, eNOS, IL-23R, TNF-α, RANNK, RANNK-L, OPG and IL-6. Additionally, we assessed fourteen thrombophilia-associated biochemical markers, as well as environmental factors that may be associated with the etiology of LCPD in family cases. The results show different hemostatic alterations in every individual analyzed, presenting out-of-range values in one or more parameters. Concentrations of hemoglobin and fibrinogen and the FIX activity percentage showed statistically significant differences (p < 0.001) when compared with healthy controls. All patients presented at least one mutated allele for the MTFHR (rs1801133), IL-23R (rs1569922) and OPG (rs2073618) polymorphisms, as well as isolated cases with other genetic variants. Our results show environmental elements from every family, and hemostatic and inflammatory disorders, may be involved in the development of LCPD. Furthermore, genetic variants could contribute to the onset of the disease. This study highlights the multifactorial nature of this pathology, involving various environmental, genetic, inflammatory, and prothrombotic factors in three families that included seven patients diagnosed with LCPD.

#2

Total Hip Arthroplasty in Lubumbashi (DR Congo), Outcomes in a Resource-Limited Setting.

Journal of orthopaedic case reports2026 Mar

Total hip arthroplasty (THA) is well established in high-income countries but remains challenging in sub-Saharan Africa due to limited implant availability, inadequate infrastructure, and financial constraints. This study presents a 7 year experience of THA in Lubumbashi, Democratic Republic of Congo, focusing on both clinical outcomes and the strategies developed to overcome local challenges. We retrospectively analyzed 60 THAs performed on 58 patients (mean age 53.8 years) between 2017 and 2024 at Medpark Clinic. The main indication was femoral head osteonecrosis (71.6%), including 11 cases in patients with sickle cell disease. All procedures used a transgluteal approach, with implant choice adapted to bone quality and availability. Rehabilitation emphasized early mobilization despite limited physiotherapy resources. At a mean follow-up of 4.5 years, functional outcomes improved markedly, with the Postel-Merle d'Aubigné score rising from 6.4 preoperatively to 16.2 at six months. Excellent or good results were achieved in 90.7% of cases. Complications occurred in 17.2% of patients, including dislocations (6.6%), infections (6.6%), periprosthetic fractures (3.3%), aseptic loosening (3.3%), one pulmonary embolism (1.6 %), and two deaths (3.3%). Barriers included high implant costs and irregular supply, addressed through long-term supplier partnerships and flexible payment plans. Infection control limitations were mitigated by strict asepsis protocols, povidone-iodine lavage, and selective use of antibiotic-loaded cement. In the absence of formal rehabilitation centers, structured patient and family education with early weight-bearing protocols facilitated recovery. Socioeconomic barriers were partially alleviated by forfait-based pricing and community financing mechanisms. Despite significant structural and economic constraints, THA can be safely and effectively implemented in resource-limited African settings when supported by careful surgical planning, tailored implant strategies, strict infection control, and innovative solutions to financial and logistical barriers.

#3

Severe Radiographic Legg-Calvé-Perthes Disease With Favorable Long-Term Functional Outcomes Following Conservative Management: A Case Report.

Cureus2026 Feb

Legg-Calvé-Perthes disease (LCPD) is a pediatric disorder characterized by avascular necrosis of the femoral head, with prognosis largely determined by the extent of epiphyseal involvement. Severe radiographic classifications are typically associated with poor long-term outcomes and often prompt surgical intervention. We present a case of a male patient diagnosed with unilateral LCPD at age three with extensive femoral head involvement by age six (Catterall Group 4, Salter-Thompson Group B, Herring Group C) who was managed non-operatively over two decades. Treatment consisted of physiotherapy, activity modification, and pain management without surgical intervention. Despite marked femoral head deformity and residual limitations in hip range of motion, the patient achieved high functional capacity, including participation in National Collegiate Athletic Association (NCAA) Division I athletics, and he maintains independence in activities of daily living as a young adult. This case highlights the potential for favorable functional outcomes with conservative management in carefully selected patients with poor-prognosis LCPD and underscores the importance of individualized treatment planning.

#4

A Novel Multisite Peripheral Nerve Stimulation Approach for Chronic Hip Pain in Avascular Necrosis: A Case Report.

Pain medicine case reports2026 Feb

Avascular necrosis (AVN) is a progressive disease, commonly leading to joint collapse and severe pain. Peripheral nerve stimulation (PNS) to the lumbar plexus and articular nerves innervating the hip can be a viable option for treatment of hip pain in patients who are not eligible for surgery. A patient with AVN-induced hip pain received bilateral lumbar plexus PNS at the level of L2, resulting in a > 90% relief of bilateral posterolateral aspects of the hip and 50% to 60% reduction in overall hip pain, respectively, at his 2-week follow-up. He subsequently underwent PNS placement to the articular branches of the femoral nerves bilaterally, resulting in improved coverage of the anterior groin leading to a 75% reduction in overall bilateral hip pain. Our case supports the utility of PNS to the lumbar plexus and articular nerve branches innervating the hip joint as a safe and novel treatment for chronic hip pain, despite limited evidence available for lumbar plexus neuromodulation.

#5

Factors That Increase the Risk of Prosthetic Joint Infection Within 90 Days After THA and TKA: A Nationwide Population-based Study.

Clinical orthopaedics and related research2026 Jan 01

Prosthetic joint infection (PJI) after THA and TKA is a serious complication. Although previous studies have identified risk factors for overall and late-onset PJI, limited research has focused specifically on infections occurring within the immediate 90-day postoperative period, a time frame critical for assessing surgical quality and early recovery outcomes. What patient and clinical factors are associated with the development of PJI within 90 days after primary THA or TKA? This was a retrospective, controlled study drawn from a longitudinally maintained, large, national database (the Taiwan National Health Insurance Research Database [NHIRD]). The NHIRD, covering > 99% of the population, provides comprehensive data for reliably identifying and tracking postoperative complications such as PJIs. Patients who underwent THA or TKA between January 2016 and December 2017 were identified. Only patients with complete follow-up data for at least 90 days after surgery, based on insurance records, were eligible for inclusion. The primary outcome was PJI within 90 days, defined as the presence of an ICD-10-Clinical Modification (CM) diagnosis code for PJI recorded in claims within 90 days of the index THA or TKA procedure. A total of 13,442 patients who underwent THA and 40,245 patients who underwent TKA were included. The PJI rate within 90 days was 0.61% (82 of 13,442) for THA and 0.58% (232 of 40,245) for TKA. Cox regression analyses were used to estimate associations between potential demographic and clinical factors and the risk of PJI within 90 days. After adjusting for age, sex, diabetes, and other clinically relevant factors, we found that the adjusted HR (aHR) for PJI within 90 days after THA was higher among patients who were male (aHR 2.49 [95% confidence interval (CI) 1.38 to 4.48]; p < 0.01), had a longer length of stay (aHR 1.06 [95% CI 1.04 to 1.09]; p < 0.01), had diabetes mellitus (aHR 3.72 [95% CI 2.21 to 6.26]; p < 0.01), had hepatitis B infection (aHR 2.44 [95% CI 1.11 to 5.36]; p = 0.03), and had hepatitis C infection (aHR 2.76 [95% CI 1.14 to 6.66]; p = 0.02). A preoperative diagnosis of osteoarthritis or avascular necrosis of the femoral head was associated with a reduced risk of PJI within 90 days after THA, compared with other etiologies (aHR 0.48 [95% CI 0.27 to 0.87] and aHR 0.43 [95% CI 0.22 to 0.84]; both p = 0.01). The aHR for PJI within 90 days after TKA was higher for patients who were younger than 65 years (aHR 1.57 [95% CI 1.18 to 2.08]; p < 0.01), male (aHR 2.05 [95% CI 1.55 to 2.71]; p < 0.01), had a longer length of stay (aHR 1.09 [95% CI 1.08 to 1.11]; p < 0.01), had osteoporosis (aHR 1.44 [95% CI 1.08 to 1.92]; p = 0.01), and had chronic kidney disease (aHR 1.50 [95% CI 1.06 to 2.11]; p = 0.02). The aHR was lower for patients who had bilateral TKA (aHR 0.31 [95% CI 0.12 to 0.84]; p = 0.02) compared with those who had unilateral TKA only. Male sex, diabetes, hepatitis C, osteoporosis, chronic kidney disease, and younger age after TKA were associated with a higher risk of PJI within 90 days. The findings indicate that surgeons may enhance perioperative infection prevention efforts in these high-risk patients by optimizing glycemic control, improving perioperative medical management, minimizing surgical time and blood loss when possible, and ensuring rigorous postoperative wound surveillance. Future large-scale observational studies are needed to refine individualized risk prediction and assess the effectiveness of targeted preventive strategies in real-world clinical practice. Level III, therapeutic study.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 120

2026

Familial Cases of Legg-Calvé-Perthes Disease-Hemostatic and Molecular Markers.

International journal of molecular sciences
2026

Total Hip Arthroplasty in Lubumbashi (DR Congo), Outcomes in a Resource-Limited Setting.

Journal of orthopaedic case reports
2026

Severe Radiographic Legg-Calvé-Perthes Disease With Favorable Long-Term Functional Outcomes Following Conservative Management: A Case Report.

Cureus
2026

A Novel Multisite Peripheral Nerve Stimulation Approach for Chronic Hip Pain in Avascular Necrosis: A Case Report.

Pain medicine case reports
2025

Exploring the alteration of gut microbiota in the rats with steroid-induce osteonecrosis of the femoral head.

BMC microbiology
2025

Silent Avascular Necrosis of the Femoral Head in Severe Hemophilia A: A Case Report.

Cureus
2026

Factors That Increase the Risk of Prosthetic Joint Infection Within 90 Days After THA and TKA: A Nationwide Population-based Study.

Clinical orthopaedics and related research
2025

Clinical Implications of HbD-Punjab and HbS co-Inheritance - A Rare Case in South India.

Hemoglobin
2025

Incidence and Risk Factors for Nontraumatic Osteonecrosis of the Femoral Head in Kidney Transplant Recipients: A Comparison of Two Eras (1985-2000 and 2001-2024).

Clinical transplantation
2025

Decreased serum and local GPX4 and SLC7A11 expression correlates with disease severity in non-traumatic osteonecrosis of the femoral head.

Journal of orthopaedic surgery and research
2025

A rare cause for osteonecrosis of femoral head and peripheral nerve damage of a child with depression.

BMC musculoskeletal disorders
2025

Targeted transarterial embolization of the femoral head: development of a minimally invasive approach to model Legg-Calvé-Perthes disease in piglets.

PloS one
2025

Microcytosis Merits Evaluation: A Case Report of Hemoglobin S With Hereditary Persistence of Fetal Hemoglobin (HbS-HPFH Syndrome).

Cureus
2025

Neglected obturator hip dislocation with associated avascular necrosis of the femoral head in adolescent, a rare case report.

International journal of surgery case reports
2025

Thrombophilia, hypofibrinolysis and osteonecrosis.

Orthopadie (Heidelberg, Germany)
2025

Healing beyond bone: a qualitative study of the core decompression experience of physically active patients with stage II hip avascular necrosis.

Journal of orthopaedic surgery and research
2025

Longitudinal Improvement of Quality of Life in Children With Legg-Calve-Perthes Disease Treated With Proximal Femoral Varus Osteotomy.

Journal of pediatric orthopedics
2024

Clinical outcomes of open reduction and internal fixation combined with sartorius muscle iliac bone graft transplantation for displaced femoral neck fractures in middle-aged and young adults: a retrospective analysis of 24 cases.

BMC musculoskeletal disorders
2024

Inhibition of sympathetic tone via hypothalamic descending pathway propagates glucocorticoid-induced endothelial impairment and osteonecrosis of the femoral head.

Bone research
2024

Low Rate of AVN and Complications in Unstable SCFE With Epiphyseal-metaphyseal Discontinuity After Treatment With a Modified Dunn Procedure.

Clinical orthopaedics and related research
2024

Augmentation of Autologous Platelet-Rich Plasma in Hip Salvage in Stages I and II of Avascular Necrosis: Randomized Blinded Trial Comparing 3 Surgical Techniques in 82 Patients.

Indian journal of orthopaedics
2024

How Is Variability in Femoral and Acetabular Version Associated With Presentation Among Young Adults With Hip Pain?

Clinical orthopaedics and related research
2024

Advances in the Pathogenesis of Steroid-Associated Osteonecrosis of the Femoral Head.

Biomolecules
2024

Brucellosis-induced bilateral avascular necrosis of the hip joints in a middle-aged Iranian woman with refractory intolerance to medications: A case report.

International journal of surgery case reports
2024

Clinical consensus recommendations for the non-surgical treatment of children with Perthes' disease in the UK.

The bone &amp; joint journal
2024

Predictors of Persistent Limp Following Proximal Femoral Varus Osteotomy for Perthes Disease.

Journal of pediatric orthopedics
2024

Pathogenic Gene Variants Identified in Patients Presenting With Perthes or Perthes-like Hip Disorder.

Journal of pediatric orthopedics
2024

Incidence of avascular necrosis of native femur following hip transposition surgery for periacetabular malignancies: a single-centre experience.

Hip international : the journal of clinical and experimental research on hip pathology and therapy
2024

Elucidating the role of the GC/GR/GLUT1 axis in steroid-induced osteonecrosis of the femoral head: A proteomic approach.

Bone
2023

Insight into Steroid-Induced ONFH: The Molecular Mechanism and Function of Epigenetic Modification in Mesenchymal Stem Cells.

Biomolecules
2024

Management of Garden-I and II Femoral Neck Fractures: Perspectives on Primary Arthroplasty.

Orthopedic research and reviews
2024

Is Subcapital Realignment for Slipped Capital Femoral Epiphysis a Reproducible Technique? Midterm Results.

Clinical orthopaedics and related research
2024

EGFL6 activates the ERK signaling to improve angiogenesis and osteogenesis of BMSCs in patients with steroid-induced osteonecrosis of the femoral head.

Naunyn-Schmiedeberg's archives of pharmacology
2023

Bilateral Avascular Necrosis of the Femoral Heads Secondary to Familial Hyperlipidemia.

Cureus
2023

"Waiting for the best day of your life". A qualitative interview study of patients' and clinicians' experiences of Perthes' disease.

Bone &amp; joint open
2023

The quality of online information on Legg-Calvé-Perthes disease: can we do better?

Archives of orthopaedic and trauma surgery
2023

CORR Insights®: Does Adjunction of Autologous Osteoblastic Cells Improve the Results of Core Decompression in Early-stage Femoral Head Osteonecrosis? A Double-blind, Randomized Trial.

Clinical orthopaedics and related research
2023

Runx2 overexpression promotes bone repair of osteonecrosis of the femoral head (ONFH).

Molecular biology reports
2023

Puncture Capsulotomy Technique for Hip Arthroscopy: Midterm Functional Outcomes.

Orthopaedic journal of sports medicine
2023

CORR Insights®: Does Flexion Varus Osteotomy Improve Radiographic Findings Compared With Patients Treated in a Brace for Late-onset Legg-Calvé-Perthes Disease?

Clinical orthopaedics and related research
2023

CORR Insights®: Is There an Association Between Femoral Head Collapse and Acetabular Coverage in Patients With Osteonecrosis?

Clinical orthopaedics and related research
2023

Does Flexion Varus Osteotomy Improve Radiographic Findings Compared With Patients Treated in a Brace for Late-onset Legg-Calvé-Perthes Disease?

Clinical orthopaedics and related research
2023

Revisiting prediction of collapse in hip osteonecrosis with artificial intelligence and machine learning: a new approach for quantifying and ranking the contribution and association of factors for collapse.

International orthopaedics
2023

Development of acetabular retroversion in LCPD hips-an observational radiographic study from early stage to healing.

Archives of orthopaedic and trauma surgery
2022

mRNA expression profiling of the cancellous bone in patients with idiopathic osteonecrosis of the femoral head by whole-transcriptome sequencing.

Medicine
2022

Management of Patients With Legg-Calvé-Perthes Disease at a Single Center in Jeddah, Saudi Arabia.

Cureus
2022

Radiographical and clinical results of a new conservative treatment algorithm in Legg-Calvè-Perthes disease: A retrospective study.

Acta orthopaedica et traumatologica turcica
2021

[Hip necrosis. A severe complication after intragluteal injection of quinine salt in Bangui, Central African Republic].

Medecine tropicale et sante internationale
2022

Quality of YouTube videos for three common pediatric hip conditions: developmental hip dysplasia, slipped capital femoral epiphysis and Legg-Calve-Perthes disease.

Journal of pediatric orthopedics. Part B
2022

Comparative effectiveness of treatment modalities in severe Legg‑Calvé‑Perthes disease: Systematic review and network meta‑analysis of observational studies.

International orthopaedics
2022

CORR Insights®: Moderate Weightbearing Restrictions Are Associated with Worse Depressive Symptoms and Anxiety in Children Aged 5 to 7 Years with Perthes Disease.

Clinical orthopaedics and related research
2021

Safety of Intra-articular Hip Corticosteroid Injections: A Matched-Pair Cohort Study.

Orthopaedic journal of sports medicine
2023

Progressive lateralization and constant hip geometry in children with DDH, NDH, and LCPD following hip reconstructive surgery: a cohort study of 73 patients with a mean follow-up of 4.9 years.

Archives of orthopaedic and trauma surgery
2022

Moderate Weightbearing Restrictions Are Associated with Worse Depressive Symptoms and Anxiety in Children Aged 5 to 7 Years with Perthes Disease.

Clinical orthopaedics and related research
2021

Ligamentum Teres Transfer During Medial Open Reduction in Patients with Developmental Dysplasia of the Hip.

The Iowa orthopaedic journal
2022

A Modeling Study of a Patient-specific Safe Zone for THA: Calculation, Validation, and Key Factors Based on Standing and Sitting Sagittal Pelvic Tilt.

Clinical orthopaedics and related research
2021

Primary cam morphology; bump, burden or bog-standard? A concept analysis.

British journal of sports medicine
2021

Mapping and Crosswalk of the Oxford Hip Score and Different Versions of the Hip Disability and Osteoarthritis Outcome Score.

Clinical orthopaedics and related research
2021

A novel mutation of COL2A1 in a large Chinese family with avascular necrosis of the femoral head.

BMC medical genomics
2021

Puerarin facilitates osteogenesis in steroid-induced necrosis of rabbit femoral head and osteogenesis of steroid-induced osteocytes via miR-34a upregulation.

Cytokine
2021

CORR Insights®: Weightbearing and Activity Restriction Treatments and Quality of Life in Patients with Perthes Disease.

Clinical orthopaedics and related research
2021

Resveratrol prevents steroid-induced osteonecrosis of the femoral head via miR-146a modulation.

Annals of the New York Academy of Sciences
2022

Results after spica cast immobilization following hip reconstruction in 95 cases: is there a need for alternative techniques?

Archives of orthopaedic and trauma surgery
2020

Namaqualand hip dysplasia in South Africa: The molecular determinant elucidated.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde
2020

Clinical profile of osteonecrosis in systemic lupus erythematosus - Experience from a tertiary care centre in South India.

Journal of family medicine and primary care
2021

Demographics and Clinical Presentation of Early-Stage Legg-Calvé-Perthes Disease: A Prospective, Multicenter, International Study.

The Journal of the American Academy of Orthopaedic Surgeons
2020

CORR Insights®: High Pelvic Incidence Is Associated with Disease Progression in Nontraumatic Osteonecrosis of the Femoral Head.

Clinical orthopaedics and related research
2020

High Pelvic Incidence Is Associated with Disease Progression in Nontraumatic Osteonecrosis of the Femoral Head.

Clinical orthopaedics and related research
2020

H subtype vascular endothelial cells in human femoral head: an experimental verification.

Annals of palliative medicine
2020

Association Between Genetic Polymorphisms of CR2 Gene and the Risk of Steroid-Induced Osteonecrosis of the Femoral Head in the Chinese Han Male Population.

Genetic testing and molecular biomarkers
2020

Tübingen hip flexion splints for developmental dysplasia of the hip in infants aged 0-6 months.

BMC pediatrics
2020

The outcomes of Perthes' disease.

The bone &amp; joint journal
2020

Long-term Anticoagulation Prevents Progression of Stages I and II Primary Osteonecrosis of the Hip in Patients With Familial Thrombophilia.

Orthopedics
2020

The Use of Platelet-Rich Plasma for the Treatment of Osteonecrosis of the Femoral Head: A Systematic Review.

BioMed research international
2020

Osteonecrosis of the femoral head due to brucellosis: a case report.

BMC infectious diseases
2020

Influence of passive smoking on the onset of Legg-Calvè-Perthes disease: a systematic review and meta-analysis.

Journal of pediatric orthopedics. Part B
2020

Probiotics for maintenance of remission in ulcerative colitis.

The Cochrane database of systematic reviews
2020

Evaluating the association between avascular necrosis of femoral head and oral corticosteroids use in Taiwan.

Medicine
2020

Did Osteoblastic Cell Therapy Improve the Prognosis of Pre-fracture Osteonecrosis of the Femoral Head? A Randomized, Controlled Trial.

Clinical orthopaedics and related research
2019

Supercapsular percutaneously-assisted total hip (SuperPath) versus posterolateral total hip arthroplasty in bilateral osteonecrosis of the femoral head: a pilot clinical trial.

BMC musculoskeletal disorders
2020

Does An Augmented Reality-based Portable Navigation System Improve the Accuracy of Acetabular Component Orientation During THA? A Randomized Controlled Trial.

Clinical orthopaedics and related research
2020

CORR Insights®: Isolated Trochanteric Descent and Greater Trochanteric Apophyseodesis Are Not Effective in the Treatment of Post-Perthes Deformity.

Clinical orthopaedics and related research
2019

Free vascularized iliac bone flap based on deep circumflex iliac vessels graft for the treatment of osteonecrosis of femoral head.

Journal of orthopaedic surgery and research
2020

Isolated Trochanteric Descent and Greater Trochanteric Apophyseodesis Are Not Effective in the Treatment of Post-Perthes Deformity.

Clinical orthopaedics and related research
2019

Developmental dysplasia of the hip: update of management.

EFORT open reviews
2019

5-Azacytidine and trichostatin A enhance the osteogenic differentiation of bone marrow mesenchymal stem cells isolated from steroid-induced avascular necrosis of the femoral head in rabbit.

Journal of biosciences
2019

Long-term outcomes of total hip arthroplasty in patients younger than 55 years: a systematic review of the contemporary literature.

Canadian journal of surgery. Journal canadien de chirurgie
2019

Relationship of α2-Macroglobulin with Steroid-Induced Femoral Head Necrosis: A Chinese Population-Based Association Study in Southeast China.

Orthopaedic surgery
2019

OGR1 mediates the inhibitory effects of acidic environment on proliferation and angiogenesis of endothelial progenitor cells.

Cell biology international
2018

Does Extracorporeal Irradiation and Reimplantation After Acetabular Resections Result in Adequate Hip Function? A Preliminary Report.

Clinical orthopaedics and related research
2019

Real-World Database Examining the Association Between Avascular Necrosis of the Femoral Head and Diabetes in Taiwan.

Diabetes care
2018

CORR Insights®: What are the Demographics and Epidemiology of Legg-Calvé-Perthes Disease in a Large Southern California Integrated Health System?

Clinical orthopaedics and related research
2018

Predictors of femoral shortening for pediatric developmental hip dysplasia surgery: an observational study in 435 patients.

Patient safety in surgery
2018

The clinical application of a novel method of internal fixation for femoral neck fractures-dynamic locking compression system.

Journal of orthopaedic surgery and research
2018

Clinical value of 3D printing guide plate in core decompression plus porous bioceramics rod placement for the treatment of early osteonecrosis of the femoral head.

Journal of orthopaedic surgery and research
2018

The role of autophagy in steroid necrosis of the femoral head: a comprehensive research review.

International orthopaedics
2018

Pediatric Orthopaedic Consults From Chiropractic Care.

Journal of surgical orthopaedic advances
2018

COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report.

Molecular medicine reports
2018

Radiological analysis of cystic lesion in osteonecrosis of the femoral head.

International orthopaedics
2018

Is Legg-Calvé-Perthes Disease a Local Manifestation of a Systemic Condition?

Clinical orthopaedics and related research
2017

Timing of surgical intervention for developmental dysplasia of the hip: a randomised controlled trial (Hip 'Op).

Health technology assessment (Winchester, England)
2016

Exploring the Association between Legg-Calvé-Perthes Disease and Attention Deficit Hyperactivity Disorder in Children.

The Israel Medical Association journal : IMAJ
2017

The use of anticoagulants for prevention and treatment of osteonecrosis of the femoral head: A systematic review.

Medicine
2017

Hyper-immunoglobulin E-like syndrome in a patient with multiple genetic mutations.

Annals of allergy, asthma &amp; immunology : official publication of the American College of Allergy, Asthma, &amp; Immunology
2017

Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations.

American journal of medical genetics. Part A
2017

Management and radiographic outcomes of femoral head fractures.

Journal of orthopaedics and traumatology : official journal of the Italian Society of Orthopaedics and Traumatology
2017

Hip Osteonecrosis Is Associated with Increased Plasma IL-33 Level.

Mediators of inflammation
2017

Genome-wide association scans for idiopathic osteonecrosis of the femoral head in a Korean population.

Molecular medicine reports
2016

Single-nucleotide polymorphisms of MMP2 in MMP/TIMP pathways associated with the risk of alcohol-induced osteonecrosis of the femoral head in Chinese males: A case-control study.

Medicine
2016

Focused extracorporeal shock wave for osteonecrosis of the femoral head with leukemia after allo-HSCT: a case series.

Bone marrow transplantation
2016

Comparative analysis of gene expression profiles of hip articular cartilage between non-traumatic necrosis and osteoarthritis.

Gene
2016

Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head.

Journal of medical genetics
2016

Comparative analysis of gene expression profiles in normal hip human cartilage and cartilage from patients with necrosis of the femoral head.

Arthritis research &amp; therapy
2016

A Twin Study of Perthes Disease.

Pediatrics
2015

ADDICTION OR PSEUDOADDICTION IN SICKLE CELL DISEASE PATIENTS: TIME TO DECIDE - A CASE SERIES.

Annals of Ibadan postgraduate medicine
2015

Imaging and histopathological aspects in aseptic osteonecrosis of the femoral head.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
2015

Prevalence of Nontraumatic Osteonecrosis of the Femoral Head and its Associated Risk Factors in the Chinese Population: Results from a Nationally Representative Survey.

Chinese medical journal
2016

Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion.

JIMD reports
2016

Osteonecrosis After Femoral Neck Fractures in Children and Adolescents: Analysis of Risk Factors.

Journal of pediatric orthopedics
2015

[Buschke-Ollendorff syndrome in two generations imitated Calvé-Legg-Perthes disease].

Ugeskrift for laeger

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Comunidades

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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Familial Cases of Legg-Calv&#xe9;-Perthes Disease-Hemostatic and Molecular Markers.
    International journal of molecular sciences· 2026· PMID 41828420mais citado
  2. Total Hip Arthroplasty in Lubumbashi (DR Congo), Outcomes in a Resource-Limited Setting.
    Journal of orthopaedic case reports· 2026· PMID 41815673mais citado
  3. Severe Radiographic Legg-Calv&#xe9;-Perthes Disease With Favorable Long-Term Functional Outcomes Following Conservative Management: A Case Report.
    Cureus· 2026· PMID 41788096mais citado
  4. A Novel Multisite Peripheral Nerve Stimulation Approach for Chronic Hip Pain in Avascular Necrosis: A Case Report.
    Pain medicine case reports· 2026· PMID 41779994mais citado
  5. Factors That Increase the Risk of Prosthetic Joint Infection Within 90 Days After THA and TKA: A Nationwide Population-based Study.
    Clinical orthopaedics and related research· 2026· PMID 40569647mais citado
  6. The role of gender in patients with developmental dysplasia of the hip treated with closed reduction and spica cast immobilization: does it affect prognosis?
    J Pediatr Orthop B· 2026· PMID 41841674recente
  7. Proportion of Avascular Necrosis of Femoral Head in Coronavirus Disease 19 Patients.
    Ann Afr Med· 2026· PMID 40576413recente
  8. Effects of PRP injection combined with intersecting femoral head decompression versus combined with multiple core decompression in the treatment of avascular necrosis of femoral head-a single-center retrospective cohort study.
    BMC Musculoskelet Disord· 2025· PMID 40316969recente
  9. Hip arthroscope-assisted percutaneous reduction and fixation of displaced subcapital femoral neck fracture.
    Front Surg· 2025· PMID 40236988recente
  10. Clinical analysis of Ganz approach in the treatment of Pipkin type IV fracture: a retrospective review.
    BMC Musculoskelet Disord· 2025· PMID 40200319recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:86820(Orphanet)
  2. MONDO:0012126(MONDO)
  3. GARD:10914(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q1652102(Wikidata)

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.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Necrose avascular da cabeça do fêmur, forma familiar
Compêndio · Raras BR

Necrose avascular da cabeça do fêmur, forma familiar

ORPHA:86820 · MONDO:0012126
Prevalência
Unknown
Herança
Autosomal dominant
CID-10
M87.8 · Outras osteonecroses
CID-11
Início
Adult
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0015814
Wikidata
Papers 10a
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