Raras
Buscar doenças, sintomas, genes...
Síndrome de displasia pélvica-artrogripose dos membros inferiores
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Esta é uma lista de doenças que começam com a letra "S".

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
5
pacientes catalogados
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q68.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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O Raras está aqui pra te apoiar — com ou sem diagnóstico

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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
7 sintomas
💪
Músculos
5 sintomas
😀
Face
1 sintomas

+ 8 sintomas em outras categorias

Características mais comuns

100%prev.
Baixa estatura
Frequência: 5/5
100%prev.
Osso pélvico estreito
Frequência: 5/5
100%prev.
Hiperlordose lombar
Frequência: 5/5
100%prev.
Escoliose
Frequência: 5/5
100%prev.
Hipertrofia muscular paraespinhal
Frequência: 5/5
100%prev.
Contratura congênita do pé
Frequência: 5/5
21sintomas
Muito frequente (16)
Frequente (4)
Sem dados (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 21 características clínicas mais associadas, ordenadas por frequência.

Baixa estaturaShort stature
Frequência: 5/5100%
Osso pélvico estreitoNarrow pelvis bone
Frequência: 5/5100%
Hiperlordose lombarLumbar hyperlordosis
Frequência: 5/5100%
EscolioseScoliosis
Frequência: 5/5100%
Hipertrofia muscular paraespinhalParaspinal muscle hypertrophy
Frequência: 5/5100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202141 papers
Linha do tempo
2026Hoje · 2026📈 2021Ano 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

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome de displasia pélvica-artrogripose dos membros inferiores

🗺️

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

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

A feasibility study of multi-contrast venography with non-enhanced magnetic resonance techniques in diagnosing iliac vein compression syndrome.

Phlebology2026 Feb 28

ObjectiveTo explore the value of multi-contrast venography with non-enhanced magnetic resonance techniques in diagnosing iliac vein compression syndrome (IVCS).MethodsEighty-seven patients suspected of IVCS were enrolled and underwent T1-weighted sampling perfection with application-optimized contrasts using different flip angle evolutions (T1 SPACE) and SPACE FLOW magnetic resonance venography (MRV) scans within 2 days of lower extremity computed tomography venography (CTV). The image qualities of CTV, T1 SPACE and SPACE FLOW were evaluated using a 4-point visual scoring system. Vessel diameters and stenosis rates were compared and pelvic collateral vessels were assessed on CTV and MRV images. With the results of digital subtraction angiography (DSA) as the gold standard, receiver operating characteristic (ROC) analysis was used to calculate diagnostic performances of the stenosis rate combined with collateral vessels both CTV and non-enhanced MRV.ResultsInter-observer agreement on image quality scores was good, with Kappa values of 0.633, 0.756 and 0.769 for CTV, T1 SPACE and SPACE FLOW, respectively. SPACE FLOW and CTV showed comparable image quality, while T1 SPACE had relatively lower quality scores. The stenosis rates measured by T1 SPACE and SPACE FLOW were consistent with CTV results. For the diagnosis of IVCS using stenosis rates and collateral vessels, CTV and MRV showed similar ROC curve areas, with sensitivity/specificity/accuracy of 82.1%/95%/85.1% and 80.6%/95%/83.9%, respectively.ConclusionMulti-contrast MRV with non-enhanced techniques can offer complementary information, clearly depict the degree of iliac vein compression and collateral vessels. It can serve as another auxiliary examination method for clinical diagnosis of IVCS.

#2

Vulvar Varicosities and Pelvic Venous Disorders in Nongravid Women: A Case Series.

Journal of clinical medicine2026 Feb 16

Background/Objectives: The authors hypothesize that some vulvar varicosities are due to and can be treated by addressing underlying pelvic venous disorders (PeVDs). The purpose of this single center retrospective study is to evaluate vulvar varicosity resolution following treatment of an underlying PeVD. Methods: This study is a single center, retrospective case series from 2010 to 2025 of all patients evaluated in a single vein clinic with vulvar varicosities confirmed by examination and/or imaging, most commonly CT abdomen and pelvis with contrast. Inclusion criteria were presence of vulvar varicosities, evidence of an underlying PeVD, treatment with either left ovarian vein embolization or left iliac stenting, and at least one month of follow-up. PeVD was defined as a combination of suggestive imaging findings (left ovarian vein dilation or left common iliac compression) combined with associated symptoms including pelvic pain and pelvic fullness. Exclusion criteria included prior intervention for PeVDs, other vascular pathologies such as vascular malformations, incomplete documentation, and inaccessible imaging. Results: A total of 18 women with an average of 44 years of age met inclusion and exclusion criteria for the study. Thirteen patients (72.2%) presented with lower extremity varicosities at the same visit. Fifteen patients were multiparous at the time of presentation with a para status averaging 2.5. Ten patients (55.6%) had left ovarian reflux confirmed venographically and received ovarian vein embolization. Preoperative or intraoperative left ovarian venous diameter averaged 7.8 mm. Seven patients (38.9%) had left common iliac vein compression and received self-expandable left common iliac venous stenting. Preoperative CT suggested compression and all patients had intraoperative intravascular ultrasound (IVUS) prior to stenting with an average stenosis of 75.9%. One patient had both pathologies and received both treatments. No patients underwent right ovarian vein embolization nor had venographic evidence of right ovarian reflux. A total of 16 out of 18 patients (88.9%) had complete resolution of PeVDs. One patient had partial response for pelvic pain at one month of follow-up. Another patient had recurrence of pelvic pain symptoms and is being worked up for Nutcracker syndrome. All patients had resolution of their vulvar varicosities on follow-up examination. Conclusions: Vulvar varicosities may be indicative of an underlying PeVD. Vulvar varicosity resolution is associated with PeVD treatment in this case series. Therefore, vulvar varicosities are an important physical exam finding in pelvic examination and referral to a vein specialist should be considered. Additional higher powered, prospective, and randomized studies are indicated to further evaluate this relationship.

#3

A New Case of PITX1-Related Mandibular-Pelvic-Patellar (MPP) Syndrome.

Clinics and practice2026 Jan 29

Background: The PITX1 gene encodes a transcription factor that plays a crucial role in the development of the lower limbs, pelvis, and structures derived from the first branchial arch. Pathogenic variants in PITX1 are associated with a limited spectrum of rare disorders, including congenital talipes equinovarus with or without long bone anomalies and/or mirror-image polydactyly, and Liebenberg syndrome. In 2020, a novel clinical phenotype, Mandibular-Pelvic-Patellar (MPP) syndrome, resulting PITX1 missense variants, was proposed. Case presentation: We report the fourth documented case of MPP syndrome worldwide, identified in a 17-year-old female patient presenting with congenital lower limb deformities, patellar aplasia, and micrognathia. Whole-genome sequencing revealed a heterozygous PITX1 missense variant NM_002653.5: c.412A>C, p.(Lys138Gln). The clinical phenotype included knee flexion contractures and severe equinovarus and planovalgus foot deformities requiring multiple staged reconstructive surgical procedures. Conclusions: This case supports recognition of MPP syndrome as a clinically and genetically distinct PITX1-related disorder. Our findings expand the phenotypic spectrum of MPP syndrome and suggest that severe congenital foot deformities represent a consistent and clinically relevant feature of this condition.

#4

ACR Appropriateness Criteria® Nonthrombotic Iliac Vein Lesion.

Journal of the American College of Radiology : JACR2026 Feb 17

Nonthrombotic iliac vein lesions (NIVLs), also referred to as a May-Thurner lesion/anatomy or Cockett syndrome, most frequently result from the left common iliac vein being compressed between the right common iliac artery and the spine. Iliac vein compression is often clinically silent, but can be associated with significant symptoms in which case it is referred to as May-Thurner syndrome. It is still unclear why some patients are asymptomatic whereas others can develop severe, debilitating symptoms. Most frequently, this disorder can cause lower extremity edema, deep venous thrombosis, or chronic venous insufficiency. Since NIVL can be clinically silent, a thorough history and physical examination is needed to rule out alternative etiologies. For symptomatic patients, imaging evaluation is warranted to make a definitive diagnosis. The objectives of imaging in a symptomatic patient include confirmation of diagnosis, identifying the location and extent of occlusion, and procedural planning. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision process support the systematic analysis of the medical literature from peer reviewed journals. Established methodology principles such as Grading of Recommendations Assessment, Development, and Evaluation or GRADE are adapted to evaluate the evidence. The RAND/UCLA Appropriateness Method User Manual provides the methodology to determine the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where peer reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation.

#5

Endovascular Management of Iliac Hematoma Associated with May-Thurner Syndrome Using Mechanical Thrombectomy and Bare-Metal Stenting: A Case Report.

Journal of clinical medicine2026 Feb 05

Background/Objectives: May-Thurner syndrome (MTS) is a common cause of iliofemoral deep vein thrombosis (DVT). Venous bleeding associated with MTS is extremely rare and has been reported mainly as spontaneous iliac vein rupture (SIVR) with retroperitoneal or iliac hematoma. Additionally, standardized treatment strategies have not yet been established. Herein, we report a case of an iliac hematoma associated with MTS that was successfully treated with endovascular mechanical thrombectomy and bare-metal stenting. Case Presentation: A 69-year-old man presented with acute swelling and pain in the left lower extremity. Computed tomography angiography demonstrated extensive iliofemoral DVT and an iliac hematoma adjacent to the left common iliac vessels, without definite evidence of iliac vein rupture. Initial conservative management with anticoagulation therapy was selected as the patient was hemodynamically stable and showed no active bleeding. However, follow-up imaging one week later revealed persistent DVT with interval enlargement of the hematoma. Pelvic arteriography excluded an arterial bleeding source. Endovascular treatment was performed, including mechanical thrombectomy using the AngioJet system and bare-metal stent placement to restore venous outflow. Follow-up imaging revealed complete thrombus resolution, hematoma regression, and sustained stent patency. Conclusions: Iliac hematomas associated with MTS may occur without definite radiological evidence of iliac vein rupture. In selected hemodynamically stable patients, an individualized endovascular strategy focused on venous outflow restoration using the AngioJet system and bare metal stents may be a feasible treatment option.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 197

2026

A feasibility study of multi-contrast venography with non-enhanced magnetic resonance techniques in diagnosing iliac vein compression syndrome.

Phlebology
2026

Vulvar Varicosities and Pelvic Venous Disorders in Nongravid Women: A Case Series.

Journal of clinical medicine
2026

A New Case of PITX1-Related Mandibular-Pelvic-Patellar (MPP) Syndrome.

Clinics and practice
2026

ACR Appropriateness Criteria® Nonthrombotic Iliac Vein Lesion.

Journal of the American College of Radiology : JACR
2026

Endovascular Management of Iliac Hematoma Associated with May-Thurner Syndrome Using Mechanical Thrombectomy and Bare-Metal Stenting: A Case Report.

Journal of clinical medicine
2025

Acute Aortic Occlusion Mimicking Cauda Equina Syndrome: Complete Neurologic Recovery After Emergent Endovascular Revascularization.

Cureus
2025

Psoas Syndrome Following a Generalized Seizure.

Journal of epilepsy research
2025

Anatomical patterns and collateral pathways in congenital aplasia, atresia, and hypoplasia of iliac and lower extremity veins: a retrospective cohort study.

Surgical and radiologic anatomy : SRA
2025

Ovarian carcinoid tumor with carcinoid heart syndrome: A case report and literature review.

Gynecologic oncology reports
2026

The Mammary Artery Lifeline: How Collateral Dependency of Hidden Aortic Occlusion Altered Revascularization Strategy.

JACC. Case reports
2025

Fear of movement is associated with biomechanical variables in women with patellofemoral pain.

Journal of bodywork and movement therapies
2025

Muscle strength and activation patterns during static and dynamic single-leg support tasks in women with greater trochanteric pain syndrome.

Journal of bodywork and movement therapies
2025

Predictors of pelvic venous compression on intravascular ultrasound from duplex ultrasound and venography.

Phlebology
2026

Clinical Management and Genetic Analysis of a Complex Case of Segmental Infantile Hemangioma with Subcutaneous Pelvic and Gluteal Tumefactions.

Advances in experimental medicine and biology
2026

Coordination index - A method for the assessment of the inter-joint coordination during gait.

Gait &amp; posture
2025

Left Ovarian Vein Transposition to Restore Renal Venous Outflow in a Patient With Severe Pelvic Congestion After Multiple Endovascular and Failed Open Procedures for Nutcracker Syndrome.

EJVES vascular forum
2025

Coexistence of Severe Valvular Pulmonary Stenosis and Papillary Thyroid Carcinoma: A Rare Association or Coincidence?

Cureus
2025

Appendiceal abscess presenting with meralgia paresthetica: a case report and review of literature.

Journal of medical case reports
2026

What Factors Are Associated With Acute Compartment Syndrome After Gunshot Injuries to the Upper Extremity?

Clinical orthopaedics and related research
2025

Leriche syndrome: A closer look at a rare and critical aortoiliac occlusion.

Radiology case reports
2026

Paradigm shift and long-term results in the diagnosis and treatment of pelvic venous disorder.

Journal of vascular surgery. Venous and lymphatic disorders
2025

Effects of altering walking foot strike pattern in combination with lower extremity strengthening on lower limb alignment in females with patellofemoral pain: a randomized controlled trial.

Scientific reports
2025

Sacrococcygeal Chordoma: A Diagnostic Challenge.

Cureus
2025

Diagnostic Yield of Pelvic MRV in Patients With Embolic Stroke of Undetermined Source (ESUS): A Scoping Review and Metanalysis.

The neurologist
2025

An Unusual Presentation of Inferior Mesenteric Artery Steal Syndrome Induced by Walking.

Cureus
2025

Occult tethered cord syndrome: insights into clinical and MRI features, prognostic factors, and treatment outcomes in 30 dogs with confirmed or presumptive diagnosis.

Frontiers in veterinary science
2025

Effect of total knee arthroplasty on the spinopelvic parameters: A systemic review and metanalysis.

World journal of orthopedics
2026

Short-term Squatting Mechanics After Arthroscopic Treatment for Femoroacetabular Impingement in Adolescents.

Clinical orthopaedics and related research
2025

Pulmonary Arterial Hypertension Onset in an Adult Woman With a TBX4 Likely Pathogenic Variant Following Imatinib Administration: A Case Report.

American journal of medical genetics. Part A
2025

Transverse myelitis as a rare paraneoplastic manifestation of a pancreatic tail adenocarcinoma: A case report.

Medicine
2025

Three-dimensional lower limb kinematics and kinetics in femoroacetabular impingement syndrome (FAIS) patients with and without borderline developmental dysplasia of the hip (BDDH) during level walking.

BMC musculoskeletal disorders
2025

Assessment of hip joint mechanics during walking in people with Marfan syndrome.

Gait &amp; posture
2025

Sporadic late onset nemaline myopathy responsive to plasma exchanges discovered during a Graft-versus-host disease.

Neuromuscular disorders : NMD
2025

Extracorporeal Shockwave Therapy for Tendinopathies Around the Hip and Pelvis: A Systematic Review.

HSS journal : the musculoskeletal journal of Hospital for Special Surgery
2025

The Hidden Threat: Chronic Urinary Retention and Thromboembolism in Underlying May-Thurner Syndrome.

Case reports in vascular medicine
2025

A case of acute appendicitis in a patient with minimal change disease.

CEN case reports
2024

MODERN METHODS OF SURGICAL TREATMENT OF DIABETIC FOOT SYNDROME.

Georgian medical news
2025

Positive Evolution of a Child Suffering from Caudal Regression Syndrome and Agenesia Sacra After Treatment with Growth Hormone and Rehabilitation.

International journal of molecular sciences
2025

Impact of mild leg length discrepancy on pelvic alignment and gait compensation in children.

Gait &amp; posture
2025

Management of extremity and pelvic fractures in earthquake: our observations and recommendations.

BMC musculoskeletal disorders
2025

Three-Dimensional Gait Analysis of School-Age Children With Angelman Syndrome: A Case-Control Study.

American journal of medical genetics. Part A
2024

Ipsilateral Double May-Thurner Syndrome With a Congenital Double Left Common Iliac Vein: A Case Report of an Unprecedented Anatomical Variant and Hemodynamic Interaction.

Cureus
2024

Extracranial arteriovenous malformations: a 10-year experience at a German vascular anomaly center and evaluation of diagnostic imaging for endovascular therapy assessment.

Frontiers in medicine
2024

[Electromyography in atypical variants of motor neuron disease: a case series].

Revista medica del Instituto Mexicano del Seguro Social
2025

A pedicled anterolateral thigh flap decreased the risk of empty pelvis syndrome following total pelvic exenteration.

Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland
2024

Radiological perspective on earthquake trauma: differences in children and adults.

Revista da Associacao Medica Brasileira (1992)
2024

Effect of hip abductors training on pelvic drop and knee valgus in runners with medial tibial stress syndrome: a randomized controlled trial.

Journal of orthopaedic surgery and research
2024

A Benign Finding of Hemorrhagic Pancreatitis.

Cureus
2024

Clinical Presentation and Physiotherapy Rehabilitation of Cauda Equina Syndrome with Urinary Incontinence: A Case Report.

Cureus
2024

Pelvic tilt and stiffness of the muscles stabilising the lumbo-pelvic-hip (LPH) complex in tensiomyography examination.

PloS one
2024

Vulvar Lymphangioma Arising in the Setting of May-Thurner Syndrome.

Case reports in vascular medicine
2024

Bilateral thigh compartment syndrome following intraoperative pelvic binder reduction of open pelvic fracture: a case report and review of literature.

European journal of orthopaedic surgery &amp; traumatology : orthopedie traumatologie
2024

THE INFLUENCE OF CHANGES IN CARBOHYDRATE METABOLISM INDICATORS IN PATIENTS WITH POLYTRAUMA COMPLICATED BY ALCOHOLIC DELIRIUM ON THE CHOICE OF THE SEDATION METHOD.

Georgian medical news
2025

Preoperative Abnormal Posture Improves After Total Knee Arthroplasty: Knee-Hip-Spine Syndrome.

The Journal of arthroplasty
2024

Acetabular and pelvic fracture repair complicated by phlegmasia cerulea dolens: A report of limb salvage with open thrombectomy and modified Palma procedure.

Journal of vascular surgery cases and innovative techniques
2024

Diagnosis and Management of Pelvic Venous Disorders in Women.

Cardiovascular and interventional radiology
2025

Current iliotibial band syndrome alters patterns of running coordination in male and female runners, but not their levels of coordination variability.

Sports biomechanics
2024

Injection, hematoma, abscess, systemic inflammatory response syndrome, stairway to hell: Case report.

Medicine
2024

Unveiling May-Thurner Syndrome in a Case of Recurrent Deep Venous Thrombosis With Bilateral Pulmonary Embolism.

Cureus
2024

The sex prevalence of lower limb varicose vein networks.

Journal of vascular surgery. Venous and lymphatic disorders
2024

Anatomical Proximity Between Sciatic Nerve and Ischial Spine and its Relationship to the Development of Deep Gluteal Pain Syndrome.

World neurosurgery
2024

Surgical anteriorization of the left common iliac vein results in improved venous outflow and quality of life for May-Thurner syndrome.

Journal of vascular surgery cases and innovative techniques
2024

Shots fired: evaluation of vascular injury, compartment syndrome, and transfusion rates among civilian ballistic orthopaedic fracture patients presenting to two Level I trauma centres.

European journal of orthopaedic surgery &amp; traumatology : orthopedie traumatologie
2024

Gait biomechanics do not differ between adolescents with and without patellofemoral pain.

Scandinavian journal of medicine &amp; science in sports
2024

Radiofrequency venous ablation for symptomatic relief in postural orthostatic tachycardia syndrome: a case series.

European heart journal. Case reports
2024

Sirenomelia: An anatomical assessment and genetic sex determination of two cases.

Journal of anatomy
2024

Effects of two gait retraining programs on pain, function, and lower limb kinematics in runners with patellofemoral pain: A randomized controlled trial.

PloS one
2023

Peripheral Nerve Stimulation With High-Frequency Electromagnetic Coupling at the Sural and Posterior Tibial Nerves for the Treatment of Complex Regional Pain Syndrome in Lower Extremities: Case Report.

Pain medicine case reports
2023

Lasso Analysis of Gait Characteristics and Correlation with Spinopelvic Parameters in Patients with Degenerative Lumbar Scoliosis.

Journal of personalized medicine
2024

An atypical inferior gluteal artery passing through the piriformis muscle.

Surgical and radiologic anatomy : SRA
2023

Association of Changes in Hip and Knee Kinematics During a Single-Leg Squat With Changes in Patient-Reported Outcomes at 6 Months and 1 Year After Hip Arthroscopy.

The American journal of sports medicine
2023

Muscle synergies analysis shows altered neural strategies in women with patellofemoral pain during walking.

PloS one
2023

Use of tubularized bovine pericardium in left renal vein transposition for nutcracker syndrome.

Journal of vascular surgery cases and innovative techniques
2023

Differential diagnosis of stage 2, 3 and 4 pressure injuries of the pelvis and lower extremity: a case series.

Journal of wound care
2023

Influence of self-perceived disability on squatting kinematics in individuals with patellofemoral pain.

Clinical biomechanics (Bristol, Avon)
2023

Consensus for management of sacral fractures: from the diagnosis to the treatment, with a focus on the role of decompression in sacral fractures.

Journal of orthopaedics and traumatology : official journal of the Italian Society of Orthopaedics and Traumatology
2023

A Comparative Study of a Small Series of Patients (50 Patients) with Pelvic Varicose Veins Treated with Plugs Alone or Plugs and Polidocanol.

Journal of clinical medicine
2023

Pelvic Venous Disorders: An Update in Terminology, Diagnosis, and Treatment.

Seminars in interventional radiology
2023

Recurrent malignant solitary fibrous tumor of pelvis: A case report and treatment approach.

Medicine
2023

Selective MR neurography-guided lumbosacral plexus perineural injections: techniques, targets, and territories.

Skeletal radiology
2023

Delayed radiation-induced motor neuron syndrome: A case report.

Journal of back and musculoskeletal rehabilitation
2023

Evaluation of the 2023 Kahramanmaras earthquake from the perspective of Plastic Surgery Department: A single-center experience.

Joint diseases and related surgery
2023

Lumbopelvic-Hip Rhythm in People with Lumbar Flexion-with-Rotation Syndrome during Hip Internal Rotation.

Medical journal of the Islamic Republic of Iran
2023

Can pelvic tilt cause cam morphology? A computational model of proximal femur development mechanobiology.

Journal of biomechanics
2023

Osteopoikilosis: a case report.

Journal of medical case reports
2023

Acute flaccid paralysis due to multifactorial hyperkalaemia.

BMJ case reports
2023

Is Cam Pincer Deformity a Predisposing Factor for Patellofemoral Pain Syndrome?

Indian journal of orthopaedics
2023

STUDY OF THE PROCESSES OF LIPID PEROXIDATION, THE STATE OF THE ANTIOXIDANT SYSTEM IN PATIENTS WITH POLYTRAUMA AND ALCOHOL ANAMNESIS.

Georgian medical news
2023

May-Thurner Syndrome Presenting with Pelvic Hemorrhage in the Setting of Blunt Trauma.

Case reports in vascular medicine
2023

Outcomes and Economic Impact of Hypogastric Artery Management During Elective Endovascular Aortic Repair for Aorto-Iliac Aneurysms.

Annals of vascular surgery
2023

A Not So Common Iliac Vein Anomaly: A Case Report.

Cureus
2023

Single-Leg Squat Test in the Clinical Setting Does Not Discriminate Patients With Femoroacetabular Impingement Syndrome From Asymptomatic Individuals.

Journal of sport rehabilitation
2023

[Application of meridian and acupoint diagnosis of three yin meridians of foot in the treatment for gynecological diseases with acupuncture and moxibustion].

Zhongguo zhen jiu = Chinese acupuncture &amp; moxibustion
2023

Relationship between kinesiophobia, isometric hip and knee torques to pelvic, hip and knee motion during the single-leg drop jump in women with patellofemoral pain: A cross-sectional study.

The Knee
2023

Complex pathologies in a patient referred for varicose veins.

Journal of vascular surgery cases and innovative techniques
2023

Olympic fencer with femoroacetabular impingement syndrome uses active rehabilitation to avoid surgery: A case report.

Journal of bodywork and movement therapies
2023

Distinction between Mitochondrial Antibody-Positive and -Negative Primary Biliary Cholangitis.

Case reports in gastroenterology
2022

Sirenomelia with associated systemic anomalies - an autopsy report in a full term neonate.

Polish journal of pathology : official journal of the Polish Society of Pathologists
2022

Is Only Peripheral Hip Arthroscopy Enough for Selected Patients with Femoroacetabular Impingement Syndrome?

The archives of bone and joint surgery
2023

Effectiveness of the muscle energy technique on postpartum meralgia paresthetica: A randomized controlled trial.

Journal of back and musculoskeletal rehabilitation
2023

A three-headed piriformis muscle: an anatomical case study and narrative review of literature.

Folia morphologica
2022

Pelvic Venous Insufficiency: Input of Short Tau Inversion Recovery Sequence.

Journal of personalized medicine
2022

Effect of Flat Running Shoes on Hip Kinematics in Male Recreational Runners.

International journal of environmental research and public health
2023

Gluteal activation during squatting reduces acetabular contact pressure in persons with femoroacetabular impingement syndrome: A patient-specific finite element analysis.

Clinical biomechanics (Bristol, Avon)
2023

Pathological gait in Rett syndrome: Quantitative evaluation using three-dimensional gait analysis.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2023

The Hip of Children with Congenital Zika Syndrome: A Prospective Observational Study.

The Journal of pediatrics
2022

Ovarian clear cell cancer associated with Trousseau syndrome: A case report and literature review.

Medicine
2023

Effectiveness and safety of bilateral internal iliac artery ligation with pre-peritoneal pelvic packing for life-threatening pelvic trauma.

Injury
2023

Resuscitative Endovascular Balloon Occlusion of the Aorta is Associated with Increased Risk of Extremity Compartment Syndrome.

World journal of surgery
2022

May-Thurner Syndrome-a Rare Cause of Extensive Pelvic DVT, but Is there More to Know?

Case reports in vascular medicine
2022

[Meralgia paraesthetica as complication of patient positioning : A not fully controllable risk].

Die Anaesthesiologie
2022

Ischial osteochondroma as an unusual source of pregnancy-related sciatic pain: a case report.

Chiropractic &amp; manual therapies
2022

An interesting case of thigh cellulitis: The streptococcal sex syndrome.

The Australasian journal of dermatology
2022

Simultaneous laparoscopic and arthroscopic excision of a huge juxta-articular ganglionic cyst compressing the sciatic nerve: A case report.

World journal of clinical cases
2022

The Impact of Physical Therapy Rehabilitation on Pain and Function in a Patient With Cauda Equina Syndrome.

Cureus
2022

Sirenomelia: Review of a Rare Syndrome with Case Report, Review of Anatomy, and Thoughts on Management.

Plastic and reconstructive surgery
2022

Iliac vein compression syndrome caused by a large bladder diverticulum: Case report and literature review.

The Journal of international medical research
2022

Pregnancy management for a woman with extensive vulvar and pelvic malformations caused by Klippel-Trénaunay syndrome.

Clinical case reports
2022

Is there a correlation between isometric muscle strength and the kinematics of the pelvis, hip and knee during functional tasks in women with patellofemoral pain?

Physical therapy in sport : official journal of the Association of Chartered Physiotherapists in Sports Medicine
2022

Buschke-Ollendorff syndrome presenting with asymptomatic yellowish papules and leg length discrepancy: A case report.

Journal of musculoskeletal &amp; neuronal interactions
2022

May-Thurner syndrome in patients with postural orthostatic tachycardia syndrome and Ehlers-Danlos syndrome: a case series.

European heart journal. Case reports
2022

Impact of ovarian vein embolization in recurrent varicose veins of the lower extremity.

VASA. Zeitschrift fur Gefasskrankheiten
2022

Surgical anatomy of the lateral femoral cutaneous nerve for meralgia paraesthetica: A simple technical guide for surgeons and trainees alike.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2022

Prevalence of Contralateral Hip Abductor Tears and Factors Associated With Symptomatic Progression.

The American journal of sports medicine
2022

Mermaid syndrome: A case report in Somalia.

Annals of medicine and surgery (2012)
2022

Compressive femoral neuropathy caused by anticoagulant therapy induced retroperitoneal hematoma: A case report.

Medicine
2022

Pelvic deep venous thrombosis mimicking lower limb cellulitis in systemic lupus erythematosus-associated antiphospholipid syndrome.

Lupus
2022

Late diagnosis of severe long-standing autoimmune hypothyroidism after the first lockdown for the Covid-19 pandemic: clinical features and follow-up.

Acta bio-medica : Atenei Parmensis
2022

Primary Pleomorphic Omental Rhabdomyosarcoma in an Adult: A Report of a Unique Case.

Cureus
2022

Biomechanical measures of clinician-defined unsteadiness during a forward stepdown task in individuals post-arthroscopy for femoroacetabular impingement syndrome.

Clinical biomechanics (Bristol, Avon)
2022

Obstructive oligo-anuria revealing pelvic gynecological cancers, analysis of a series of 102 cases.

Annals of medicine and surgery (2012)
2022

Could Frida Kahlo have had antiphospholipid syndrome?

Reumatologia clinica
2022

The radiographic assessments of spino-pelvic compensation using IoT-based real-time ischial pressure adjustment.

Medicine
2022

Assessing motor competence in kicking in individuals with Down syndrome through wearable motion sensors.

Journal of intellectual disability research : JIDR
2022

Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant.

American journal of medical genetics. Part A
2022

Left lower limb deep venous thrombosis, May-Thurner syndrome and endovascular management.

Saudi medical journal
2022

The Metabolic Syndrome Paradox: Increased Morbidity and Decreased Mortality in Operative Orthopedic Trauma.

Orthopedics
2021

Endovascular Treatment of Pelvic Congestion Syndrome: Visual Analog Scale Follow-Up.

Frontiers in cardiovascular medicine
2021

Inferior gluteal pain with sitting, unrelated to ischial bursitis.

BMJ case reports
2021

Leave It to the Prose: A Case of POEMS Syndrome.

Cureus
2022

[Anatomical basis of gluteus maximus and application as a pedicled cover flap for pelvic tumor resections].

Annales de chirurgie plastique et esthetique
2021

May-Thurner syndrome with inferior mesenteric vein drainage and porta system - Case report.

Radiology case reports
2021

Case 294: Catastrophic Antiphospholipid Syndrome.

Radiology
2021

[Diagnosis of arteriovenous compression in small pelvic varicose veins].

Angiologiia i sosudistaia khirurgiia = Angiology and vascular surgery
2021

Evaluation of Gait Pattern and Lower Extremity Kinematics of Children with Morquio Syndrome (MPS IV).

Diagnostics (Basel, Switzerland)
2022

Pelvic fractures in severely injured elderly: a double-adjustment propensity score matched analysis from a level I trauma center.

European journal of trauma and emergency surgery : official publication of the European Trauma Society
2021

Clinical Assessment and Treatment Options for Posterior Hip Pain.

The Israel Medical Association journal : IMAJ
2022

Ultrasound of the Lateral Femoral Cutaneous Nerve: A Review of the Literature and Pictorial Essay.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
2021

Gastrointestinal bleeding with Klippel-Trenaunay syndrome: a case report.

BMC gastroenterology
2021

Impaired Lower Extremity Biomechanics, Hip External Rotation Muscle Weakness, and Proximal Femoral Morphology Predict Impaired Single-Leg Squat Performance in People With FAI Syndrome.

The American journal of sports medicine
2021

Myositis in a patient with coronavirus disease 2019: A rare presentation.

Medical journal, Armed Forces India
2021

Ultrasound-guided injections in pelvic entrapment neuropathies.

Journal of ultrasonography
2021

[May-Thurner syndrome as a cause of abdominal pain: Case report].

Revista medica del Instituto Mexicano del Seguro Social
2021

Thrombosis of external iliac and common femoral arteries secondary to blunt trauma due to handlebar injury.

The American journal of emergency medicine
2021

Clinical Presentation and Evaluation of Pelvic Venous Disorders in Women.

Techniques in vascular and interventional radiology
2022

Dynamic Assessment of Femoroacetabular Impingement Syndrome Hips.

Arthroscopy : the journal of arthroscopic &amp; related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association
2021

Greater trochanteric pain syndrome in women: Analysis of magnetic resonance, sagittal alignment, muscular strength and endurance of the hip and trunk.

International journal of rheumatic diseases
2021

Management of Patients when Superficial Venous Disease Arises from Pelvic Escape Points.

Seminars in interventional radiology
2021

Deep Gluteal Syndrome: A Pain in the Buttock.

Current sports medicine reports
2021

When infection mimics cauda equina syndrome: a cautionary tale.

Annals of the Royal College of Surgeons of England
2021

Sport and Venous Thromboembolism—Site, Accompanying Features, Symptoms, and Diagnosis.

Deutsches Arzteblatt international
2021

Double May-Thurner syndrome causing chronic deep vein thrombosis and natural venous femoro-femoral bypass: a description of rare case.

Radiology case reports
2021

'Well-leg' compartment syndrome associated with gynaecological surgery: a perioperative risk-reduction protocol and checklist.

BJOG : an international journal of obstetrics and gynaecology
2021

Effects of gait retraining with focus on impact versus gait retraining with focus on cadence on pain, function and lower limb kinematics in runners with patellofemoral pain: Protocol of a randomized, blinded, parallel group trial with 6-month follow-up.

PloS one
2021

Statin-induced necrotising autoimmune myopathy: a rare complication of statin therapy.

BMJ case reports
2021

Imaging of peripheral nerve causes of chronic buttock pain and sciatica.

Clinical radiology
2021

The Effect of Manual Therapy on Lower Extremity Joint Kinematics during Running: A single-subject case study.

Journal of bodywork and movement therapies
2021

Compartment syndrome: a rare complication following laparoscopic colorectal surgery.

BMJ case reports
2021

Resolution of calcinosis using bisphosphonates in overlap syndrome - a case report.

BMC rheumatology
2021

Sagittal Deformity Correction in a Patient Suffering From Diffuse Idiopathic Skeletal Hyperostosis Who Previously Underwent a Total Hip and Bilateral Knee Replacement.

Geriatric orthopaedic surgery &amp; rehabilitation
2021

Laterality of lower extremity deep vein thrombosis after colectomy: A retrospective study using the national inpatient sample.

Phlebology
2021

Hemodynamic and Radiological Classification of Ovarian Veins System Insufficiency.

Journal of clinical medicine
2021

Pelvic Congestion Syndrome.

Seminars in ultrasound, CT, and MR
2021

The Symptoms-Varices-Pathophysiology classification of pelvic venous disorders: A report of the American Vein & Lymphatic Society International Working Group on Pelvic Venous Disorders.

Journal of vascular surgery. Venous and lymphatic disorders
2021

Hip Pain in Adults: Evaluation and Differential Diagnosis.

American family physician
2021

Pregnancy with Klippel-Trenaunay Syndrome: A Critical Case Report.

Mymensingh medical journal : MMJ
2021

A maternal death due to the intracerebral hemorrhage caused by antiphospholipid syndrome: a case report.

Clinical rheumatology
2021

Clinico-radiological review of peripheral entrapment neuropathies - Part 2 Lower limb.

European journal of radiology
2020

Pelvic venous insufficiency - an often-forgotten cause of chronic pelvic pain.

Ginekologia polska
2020

Athletic Pubalgia (Sports Hernia): Presentation and Treatment.

Arthroscopy : the journal of arthroscopic &amp; related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association
2020

[Short and medium term follow-up study on the changes of spine pelvic parameters in patients with hip-spine syndrome after total hip arthroplasty].

Zhongguo gu shang = China journal of orthopaedics and traumatology
2021

The Effectiveness of Dorsal Root Ganglion Neurostimulation for the Treatment of Chronic Pelvic Pain and Chronic Neuropathic Pain of the Lower Extremity: A Comprehensive Review of the Published Data.

Pain medicine (Malden, Mass.)
2020

Lymphatic system malformations in Noonan syndrome: Two case reports and imaging analysis.

Lymphology
2020

Prevalence of femoro-acetabular impingement in non-arthritic patients with hip pain: a meta-analysis.

International orthopaedics
2021

Trunk, pelvis and lower limb walking biomechanics are similarly altered in those with femoroacetabular impingement syndrome regardless of cam morphology size.

Gait &amp; posture
2020

Medial Tibial Stress Syndrome in Novice and Recreational Runners: A Systematic Review.

International journal of environmental research and public health
2020

Factors Influencing Base of Gait During Running: Consideration of Sex, Speed, Kinematics, and Anthropometrics.

Journal of athletic training
2020

Incidence, Outcomes, and Factors Associated with Intra-Abdominal Hypertension and Primary Abdominal Compartment Syndrome in Abdominopelvic Injury Patients.

Anesthesiology research and practice
2021

Presentation patterns in women with pelvic venous disorders differ based on age of presentation.

Phlebology
2020

Increased Neurofilament Light Chain and YKL-40 CSF Levels in One Japanese IBMPFD Patient With VCP R155C Mutation: A Clinical Case Report With CSF Biomarker Analyses.

Frontiers in neurology
2020

Pain Syndromes Secondary to Cluneal Nerve Entrapment.

Current pain and headache reports
2021

Can botulinum toxin help in managing children with functional constipation and obstructed defecation?

Journal of pediatric surgery
2020

A Case Report of a 44-Year-Old Woman With Camurati-Englemann Disease: A Case Report.

JBJS case connector
2020

Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.

Human mutation
2022

Physical therapy management of a patient with persistent groin pain after total hip arthroplasty and iliopsoas tenotomy: a case report.

Physiotherapy theory and practice
2020

Sirenomelia (Mermaid Syndrome): A Case Report.

Turk patoloji dergisi
2020

Major Limb Amputations in Patients with Congenital Vascular Malformations.

Annals of vascular surgery

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Doenças relacionadas

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Ordenadas pelo número de sintomas em comum.

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. A feasibility study of multi-contrast venography with non-enhanced magnetic resonance techniques in diagnosing iliac vein compression syndrome.
    Phlebology· 2026· PMID 41762206mais citado
  2. Vulvar Varicosities and Pelvic Venous Disorders in Nongravid Women: A Case Series.
    Journal of clinical medicine· 2026· PMID 41753245mais citado
  3. A New Case of PITX1-Related Mandibular-Pelvic-Patellar (MPP) Syndrome.
    Clinics and practice· 2026· PMID 41744514mais citado
  4. ACR Appropriateness Criteria&#xae; Nonthrombotic Iliac Vein Lesion.
    Journal of the American College of Radiology : JACR· 2026· PMID 41701131mais citado
  5. Endovascular Management of Iliac Hematoma Associated with May-Thurner Syndrome Using Mechanical Thrombectomy and Bare-Metal Stenting: A Case Report.
    Journal of clinical medicine· 2026· PMID 41682942mais citado
  6. Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review.
    Orphanet J Rare Dis· 2025· PMID 40289159recente
  7. Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
    Orphanet J Rare Dis· 2018· PMID 30285816recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2840(Orphanet)
  2. OMIM OMIM:602484(OMIM)
  3. MONDO:0011235(MONDO)
  4. GARD:4269(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q55783270(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

Compêndio · Raras BR

Síndrome de displasia pélvica-artrogripose dos membros inferiores

ORPHA:2840 · MONDO:0011235
Prevalência
<1 / 1 000 000
Casos
5 casos conhecidos
CID-10
Q68.8 · Outras deformidades osteomusculares congênitas
Início
Antenatal, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1865294
Wikidata
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