A Síndrome de Luxação do Quadril e Dismorfismo é uma condição rara que apresenta várias malformações desde o nascimento. Ela é caracterizada pelo deslocamento dos dois quadris (luxação bilateral congênita do quadril), características faciais típicas (meio da face mais achatado, olhos mais separados, uma dobra de pele no canto interno dos olhos, inchaço ao redor dos olhos, ponte do nariz larga e boca com formato de carpa), além de articulações muito flexíveis (que se estendem demais). Também foram descritos outros problemas, como defeitos no coração, deslocamento do joelho e hérnia na virilha, todos presentes desde o nascimento. Além disso, pode ocorrer refluxo vesicoureteral, que é quando a urina volta da bexiga para o ureter. Não foram encontrados mais relatos sobre essa síndrome na literatura médica desde 1995.
Introdução
O que você precisa saber de cara
A Síndrome de Luxação do Quadril e Dismorfismo é uma condição rara que apresenta várias malformações desde o nascimento. Ela é caracterizada pelo deslocamento dos dois quadris (luxação bilateral congênita do quadril), características faciais típicas (meio da face mais achatado, olhos mais separados, uma dobra de pele no canto interno dos olhos, inchaço ao redor dos olhos, ponte do nariz larga e boca com formato de carpa), além de articulações muito flexíveis (que se estendem demais). Também foram descritos outros problemas, como defeitos no coração, deslocamento do joelho e hérnia na virilha, todos presentes desde o nascimento. Além disso, pode ocorrer refluxo vesicoureteral, que é quando a urina volta da bexiga para o ureter. Não foram encontrados mais relatos sobre essa síndrome na literatura médica desde 1995.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 5 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 20 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
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Acts as an E3 ubiquitin-protein ligase. Promotes SMAD4 ubiquitination, nuclear exclusion and degradation via the ubiquitin proteasome pathway. According to PubMed:16751102, does not promote a decrease in the level of endogenous SMAD4. May act as a transcriptional repressor. Inhibits the transcriptional response to TGF-beta/BMP signaling cascade. Plays a role in the control of cell proliferation. Its association with SMAD2 and SMAD3 stimulates erythroid differentiation of hematopoietic stem/proge
Nucleus
Variantes genéticas (ClinVar)
12 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
2 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 — Síndrome de luxação da anca-dismorfia
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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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Atlantoaxial rotatory fixation.
This review provides the most up to date information on diagnosing and treating atlantoaxial rotatory fixation (AARF). The condition can be confused with torticollis, but primary care physicians should have a high index of suspicion for AARF as timely noninvasive treatment facilitates excellent outcomes. A variety of etiologies have been described to cause AARF, but is most commonly seen following a viral infection of the upper respiratory system. When diagnosed early, nonoperative measures including rest, cervical collars, and antiinflammatories/muscle relaxants can allow for full resolution, avoidance of surgery and excellent outcomes. Atlantoaxial rotatory fixation is a treatable condition without need for surgery in most cases. Dynamic computed tomography scan is the imaging modality of choice to diagnose and confirm resolution of the condition, as diagnosis requires documented pathologic subluxation between the first and second cervical vertebrae.
LONP1 Variants Are Associated With Clinically Diverse Phenotypes.
LONP1 encodes a mitochondrial protease essential for protein quality control and metabolism. Variants in LONP1 are associated with a diverse and expanding spectrum of disorders, including Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies syndrome (CODAS), congenital diaphragmatic hernia (CDH), and neurodevelopmental disorders (NDD), with some individuals exhibiting features of mitochondrial encephalopathy. We report 16 novel LONP1 variants identified in 16 individuals (11 with NDD, 5 with CDH), further expanding the clinical spectrum. Structural mapping of disease-associated missense variants revealed phenotype-specific clustering, with CODAS variants enriched in the proteolytic chamber and NDD variants more broadly distributed. CODAS is caused by biallelic variants and CDH by monoallelic variants, both of which are predicted to act through loss-of-function mechanisms. Both monoallelic and biallelic variants are associated with LONP1-related NDD, suggesting complex mechanisms such as dominant-negative effects. Our findings broaden the phenotypic and genetic spectrum of LONP1-associated disorders and highlight the essential role of LONP1 in mitochondrial function and development. The FLNB-related disorders can be divided into two groups of conditions caused by loss of function or gain of function of filamin-B. Biallelic loss-of-function pathogenic variants in FLNB cause spondylocarpotarsal synostosis syndrome (FLNB-SCT). Monoallelic gain-of-function pathogenic variants in FLNB cause a spectrum of phenotypic severity ranging from apparently isolated clubfoot to Larsen syndrome (FLNB-LS), atelosteogenesis type 3 (FLNB-AO3), and atelosteogenesis type 1 (FLNB-AO1), which is perinatal lethal. For the purposes of this GeneReview, the previously described entities Piepkorn dysplasia and boomerang dysplasia are subsumed under the FLNB-AO1 spectrum. FLNB-SCT is characterized by postnatal disproportionate short stature; scoliosis and lordosis due to vertebral fusions; carpal and tarsal synostosis; and, variably, clubfeet, hearing loss, and dental enamel hypoplasia. FLNB-LS is characterized by combinations of congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis (which can be associated with a cervical myelopathy); short, broad, spatulate distal phalanges; distinctive craniofacial features (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal ossification centers. Individuals with FLNB-LS may also present with midline cleft palate and hearing loss. FLNB-AO1 and FLNB-AO3 are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. FLNB-AO1 is lethal in the perinatal period. At its most severe, the spectrum of phenotypes assigned FLNB-AO1 can present with perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges); macrobrachycephaly; prominent forehead; hypertelorism; and proptosis. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. In individuals with FLNB-AO3, survival beyond the neonatal period is possible with intensive and invasive respiratory support. The diagnosis of FLNB-SCT is established in a proband by identification of biallelic loss-of-function pathogenic variants in FLNB by molecular genetic testing. The diagnosis of other FLNB-related disorders (LS, AO1, AO3) is established in a proband by identification of a heterozygous gain-of-function pathogenic variant in FLNB by molecular genetic testing. Treatment of manifestations: Cervical spine instability in asymptomatic infants can be successfully managed with posterior arthrodesis. Function can be stabilized (if not improved) in infants with myelopathic signs by a combination of anterior decompression and circumferential arthrodesis. Hip dislocation in individuals with FLNB-LS usually requires operative reduction. Scoliosis and clubfeet are managed in a routine manner. Anesthetic agents that allow more rapid induction and recovery are preferred in those with laryngotracheomalacia. When possible, cleft palate and hearing loss are best managed by multidisciplinary teams. Surveillance: Annual orthopedic evaluation for progressive scoliosis; feeding and growth assessment for those with cleft palate by a multidisciplinary team; annual audiologic and dental evaluations. Pregnancy management: Delivery of an affected infant has the potential to be complicated by extended breech presentation due to dislocation of the hips and knees. FLNB-SCT is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for an FLNB pathogenic variant, each sib of an affected individual has at conception a 25% chance of inheriting biallelic pathogenic variants and being affected, a 50% chance of inheriting one pathogenic variant and being heterozygous, and a 25% chance of inheriting neither of the familial FLNB pathogenic variants. Heterozygous sibs of a proband with FLNB-SCT can exhibit mild reductions in stature but no other medically significant phenotypic manifestations. Once the FLNB pathogenic variant(s) have been identified in an affected family member, heterozygote testing for at-risk relatives and prenatal/preimplantation genetic testing are possible. FLNB-LS, FLNB-AO1, FLNB-AO3, and FLNB-related apparently isolated clubfoot are inherited in an autosomal dominant manner. Comparatively mild (e.g., FLNB-LS) and severe (e.g., FLNB-AO3) forms of the autosomal dominant FLNB-related disorders can occur in the same family. Some individuals diagnosed with an autosomal dominant FLNB-related disorder have the disorder as the result of a pathogenic variant inherited from a heterozygous or mosaic parent. Some individuals have the disorder as the result of a de novo pathogenic variant (the vast majority of lethal FLNB conditions are the result of de novo pathogenic variants). Each child of a proband who is heterozygous for an FLNB pathogenic variant has a 50% chance of inheriting the pathogenic variant. Each child of a proband with somatic mosaicism for an FLNB pathogenic variant has up to a 50% chance of inheriting the pathogenic variant. Offspring who inherit an FLNB pathogenic variant from a proband with somatic mosaicism may be more severely affected than the proband. Once the FLNB pathogenic variant has been identified in an affected family member, prenatal/preimplantation genetic testing are possible.
CHARACTERIZING INTRAOCULAR LENS POSITION, STABILITY, AND IRIS MOBILITY IN EYES THAT HAVE UNDERGONE SUTURELESS INTRASCLERAL HAPTIC FIXATION.
To characterize intraocular lenses (IOL) position, IOL stability and iris dynamics in eyes with sutureless intrascleral haptic fixated intraocular lenses (SIS-IOLs). This nonconsecutive observational study used ultrasound biomicroscopy to better characterize SIS-IOLs. We included individuals who had SIS-IOL surgery between October 2014 and October 2018. We excluded individuals younger than18 years and those with active uveitis, advanced glaucoma, known ocular syndrome(s), and those with repeated SIS-IOL dislocations before the time of the ultrasound evaluation. Serial ultrasound biomicroscopy were performed in both the seated/supine positions and IOL position and stability were described as our primary outcome. As a secondary outcome, iris mobility was evaluated through dynamic ultrasound biomicroscopy in both the SIS-IOL and posterior chamber IOL (surgery between 2001 and 2019) groups. Analysis of ultrasound biomicroscopy of 22 SIS-IOLs and 10 posterior chamber IOLs, showed that on average, SIS-IOLs were positioned significantly more posteriorly than standard posterior chamber IOLs (aqueous depth = 0.59 vs. 0.48 mm; P < 0.00006)). Over time, SIS-IOLs demonstrated a slight posterior displacement of the IOL (0.18 mm shift posteriorly). Finally, in eyes with SIS-IOLs there was a high degree of iris mobility when compared with the posterior chamber IOL group (Fleiss Kappa 0.887). This study provides ultrasound-based evidence demonstrating a more posterior IOL position with increased iris mobility in eyes with an SIS-IOL. These data provide valuable information which may inform surgeons as they consider IOL selection and surgical technique.
ASPH-related ectopia lentis revisited: genetic variability, clinical diversity, and evolving therapeutic approaches.
To describe the clinical features, genetic variants, and management outcomes in ASPH-related ectopia lentis. Seven unrelated individuals (14 eyes) with ASPH-related ectopia lentis underwent detailed ocular, systemic evaluation and genetic analysis by whole-exome sequencing. The mean age at presentation was 22 years. Parental consanguinity was present in three individuals. All patients (100%) had progressive high myopia, ectopia lentis and characteristic facial dysmorphism. Lens subluxation was superior or superonasal in eleven eyes (78%) and posteriorly dislocated in three eyes (22%). Scleral thinning was noted in six eyes (43%), and one eye (7%) had spontaneous filtering bleb. Glaucoma was diagnosed in seven eyes (50%). Lensectomy was performed in eight eyes (57%): five by clear corneal approach and three via pars plana lensectomy (PPL). Postoperative filtering blebs with hypotony developed in two of three eyes that underwent PPL but in none following clear corneal approach. Cardiac abnormalities were detected in five individuals (71%). All individuals had biallelic pathogenic ASPH variants and two were novel. Scleral thinning and filtering blebs frequently occur at the site of lens subluxation and worsened by scleral surgery. Early lensectomy through a clear corneal approach minimizes scleral complications. Progressive cardiovascular involvement necessitates regular systemic monitoring.
Acute isolated traumatic anterior pisiform dislocation in an adult: A case report.
Isolated pisiform dislocation without associated carpal bone injuries is a rare clinical entity, with few reported cases. This report describes a 23-year-old, right-handed male who presented in March 2024 with acute anterior pisiform dislocation following indirect trauma while lifting furniture. The patient experienced pain, mild swelling, and tenderness in the distal ulnar region of the right hand, with initial radiographs confirming the dislocation. Spontaneous repositioning occurred during transfer to a trauma hospital after cast immobilization, eliminating the need for further imaging or invasive treatment. The patient had no history of hypermobility syndrome. Early physiotherapy facilitated full recovery of range of motion. After one-year follow-up, the patient showed a Quick-DASH score of 0, indicating complete functional recovery; therefore, no control radiographs were performed to avoid unnecessary radiation exposure in this young patient. The Quick-DASH (Disabilities of the Arm, Shoulder and Hand) score of 0/100 confirms excellent objective and subjective outcome with no residual disability. The injury likely resulted from wrist hyperextension and forceful flexor carpi ulnaris contraction. Diagnosis typically relies on clinical findings and radiographs, though advanced imaging may be required in ambiguous cases. Treatment options include immobilization, closed reduction, open reduction with internal fixation, or pisiform excision, depending on the case. This report underscores the importance of considering isolated pisiform dislocation in young patients with ulnar-sided wrist pain post-trauma and highlights the efficacy of conservative management when spontaneous reduction occurs.
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📚 EuropePMCmostrando 199
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Clinical orthopaedics and related researchA Rare Case of Bilateral Congenital Radial Head Dislocation: A Case Report.
Journal of orthopaedic case reportsOutcomes of intralenticular lens aspiration with glued scleral-fixated intraocular lens for ectopia lentis in Marfan syndrome.
Journal of cataract and refractive surgeryCommentary: Bilateral High-Riding Persistent First Cervical Intersegmental Arteries in a Case of Klippel-Feil Syndrome: The Technique of Vertebral Artery Mobilization for C1-C2 Reduction and Fusion for Atlantoaxial Dislocation and Basilar Invagination: 2-Dimensional Operative Video.
Operative neurosurgery (Hagerstown, Md.)Patellar instability: current approach.
EFORT open reviews[Risk factors of unfavorable outcome after decompressive craniectomy in children with severe traumatic brain injury].
Zhurnal voprosy neirokhirurgii imeni N. N. BurdenkoCrystalline lens dislocation as a presenting sign of Streptococcus pyogenes invasive infections.
Access microbiologyBinomial theory applied to the creation of a treatment algorithm for patellofemoral pathology.
The KneeHip Dysplasia and Dislocation in Down Syndrome: Is There Evidence to Support Consideration of Routine Hip Surveillance?
Journal of the Pediatric Orthopaedic Society of North AmericaArthroscopic Management for Patients with Secondary Femoroacetabular Impingement Resulting from Femoral Head Fracture Malunion in the Hip.
Hip & pelvisIncidence of Unapparent Preoperative Deep Vein Thrombosis in Patients with Traumatic Intraarticular Tibial Plateau Fracture.
Journal of clinical medicineOutcomes after Surgical Management of Large Joint Manifestations in Ehlers Danlos Syndrome and Hypermobility Conditions in Sports Medicine: a Systematic Review.
Current reviews in musculoskeletal medicineTrans-scaphoid trans-triquetrum lunate dorsal dislocation combined with fracture of ulnar and radius with forearm compartment syndrome: a case report.
Journal of surgical case reportsSports-related Hip Injuries.
Seminars in musculoskeletal radiology[Congenital lens malformations].
Klinische Monatsblatter fur AugenheilkundeCongenital patellar dislocation with genu valgum and Klinefelter syndrome: a case report.
Translational pediatricsArthrogryposis Multiplex Congenita Discovered at Birth: A Case Report.
CureusThree-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 disordersSuccessful Management of a Complicated Forearm Fracture in a Patient with Congenital Insensitivity to Pain: A Case Report.
International medical case reports journalEfficacy of Prolotherapy for Temporomandibular Joint Dysfunction: An Interventional Clinical Study.
Medical science monitor : international medical journal of experimental and clinical researchPosttraumatic Neurogenic Thoracic Outlet Syndrome and Immediate Effects of Decompressive Surgery: A Case Report.
Korean journal of neurotraumaRotational Bow Hunter's ischemic stroke caused by post-traumatic os odontoideum in an older patient: An illustrative case.
Surgical neurology internationalSix-month rehabilitation following surgical hip dislocation for femoroacetabular impingement restores the preoperative strength of most hip muscles, except for external rotators.
Journal of hip preservation surgeryPericapsular hip chemical denervation with phenol: A case report suggesting the interest of this new tool in rehabilitation medicine.
Annals of physical and rehabilitation medicineOptimal surgery sequence in the treatment of degenerative hip-spine syndrome: a propensity score-based inverse probability of treatment weighting analysis.
BMC musculoskeletal disorders[Minimally invasive reduction of ulnar bicortex angulation and intramedullary fixation in the treatment of Bado typeⅠchildren with Monteggia fracture].
Zhongguo gu shang = China journal of orthopaedics and traumatologyRadiographer Preferences for Shoulder x-Ray Imaging in Australia: A National Survey.
Journal of medical radiation sciencesTemporomandibular Joint Dislocation in Patients With Parkinsonism: A Report of Two Cases.
CureusThe Successful Treatment of a Patient with Ehlers-Danlos Syndrome (EDS) After an Extensive Burn Injury: A Case Report.
Medicina (Kaunas, Lithuania)Radiographic findings in patients suspected of subacromial impingement syndrome in relation to shoulder pain and disability.
Skeletal radiology[Effectiveness of arthroscopic double fixation and enhanced suture of long head of biceps tendon in situ for repairing rotator cuff tear].
Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgeryInsomnia due to a dislocation storm in hypermobile Ehlers-Danlos syndrome with small fibre neuropathy and recurrent syncope.
European journal of translational myologyIndirect Hexapod Frame-assisted Reduction of Chronic Radial Head Dislocations in Children: 20-year Experience and Technical Tips.
Strategies in trauma and limb reconstructionOpen Reduction of Hip Dislocation Is Associated with Higher Rates of Proximal Femoral Growth Disturbance in Patients with Arthrogryposis Multiplex Congenita Than Idiopathic DDH: A Dual-Center Retrospective Cohort Study.
The Journal of bone and joint surgery. American volumeGallie technique in the treatment of odontoid fracture in pediatric: A case report.
International journal of surgery case reportsCombined extravasal compression of the right subclavian artery caused by stellate ganglion schwannoma and additional rudimentary cervical rib. Clinical case and literature review.
Zhurnal voprosy neirokhirurgii imeni N. N. BurdenkoHow Do Patients with Hypermobile Ehlers-Danlos Syndrome Cope with This Medical Condition? An Analysis of Autobiographical Narratives in Relation to Pain Perception and Affect Regulation Capabilities.
Healthcare (Basel, Switzerland)Treatment of distal radius giant cell tumor with 3D-printed metal prosthesis combined with mesh patch.
3D printing in medicineThe implications of hyperekplexia on children's quality of life: a report on two cases.
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao PauloManagement of a Meniscus Tear in a Patient With Nail-Patella Syndrome: A Case Report.
CureusSpinal Cord Injury in the 21st Century Part I: A New Demographic.
World neurosurgerySpinal Cord Injury in the 21st Century Part III: A Systematic Meta-Analysis on the Timing of Surgery.
World neurosurgerySpinal Cord Injury in the 21st Century Part II: Deficiencies in Data.
World neurosurgeryThe prevalence and surgical outcome of late diagnosed hip dysplasia in children with Prader-Willi syndrome: a retrospective study.
BMC musculoskeletal disordersNeglected Chronically Dislocated Hip in a Prader-Willi Child: A Case Report and Literature Review.
Journal of orthopaedic case reportsThe novel triangular suture technique for intraocular Lens fixation in patients with pseudoexfoliation syndrome suffering from dislocation: Case series.
European journal of ophthalmologyHistopathological Characteristics of Zonular Fibers and Lens Capsule and Their Relationship to Clinical Features in Intraocular Lens Dislocation.
Journal of cataract and refractive surgeryManagement of severe, neglected, bilateral congenital knee dislocation.
Journal of pediatric orthopedics. Part BPosterior Labral Suture of Hip Joint by a 2-Step Camera Rotation Switching for Establishment of Bird's-Eye View.
Arthroscopy techniquesRadiological features and internal fixation strategies of atlantoaxial dislocation combined with atlas occipitalization.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietyPositive Evolution of a Child Suffering from Caudal Regression Syndrome and Agenesia Sacra After Treatment with Growth Hormone and Rehabilitation.
International journal of molecular sciencesA case of massive hematoma: reflections on hypermobile Ehlers-Danlos syndrome.
Frontiers in medicineIntrathoracic Schwannoma With Horner Syndrome: A Rare Association.
CureusRisk factors for intraocular pressure elevation in eyes with intraocular lens subluxation or dislocation.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieClassical Ehlers-Danlos syndrome with cranio-cervical instability in an infant due to a novel COL5A1 gene mutation.
BMJ case reportsPerilunate Dislocation Reduction Technique and Results.
Hand (New York, N.Y.)Chromosomal localization of PHOX2B during M-phase is disrupted in disease-associated mutants.
Development, growth & differentiationVisual outcomes and safety profile of retropupillary iris-claw Artisan intraocular lens implants.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieAqueous humor metabolomic profiling identifies a distinct signature in pseudoexfoliation syndrome.
Frontiers in molecular biosciencesENDOPHTHALMITIS AFTER DELAYED GORE-TEX SUTURE ROTATION: A LESSON IN SUTURE MANAGEMENT.
Retinal cases & brief reportsPatellofemoral positioning CT protocol has diagnostic ability to differentiate patellar maltracking phenotype.
Journal of orthopaedicsIntra-articular Median Nerve Entrapment of the Elbow After Medial Epicondyle Fracture: A Case Report.
JBJS case connectorSurgical management of endometrial cancer in patient with musculocontractural Ehlers-Danlos Syndrome harboring pathogenic variants in CHST14 (mcEDS-CHST14): A case report.
Gynecologic oncology reportsPhenotypic Presentation of Children with Joint Hypermobility: Preclinical Signs.
Children (Basel, Switzerland)Outcomes of Total Joint Arthroplasty in Patients Who Have Ehlers-Danlos Syndrome: A Systematic Review and Meta-Analysis.
The Journal of arthroplastyA meta-analysis of the effectiveness and side effects of hip arthroscopy and open surgical dislocation in the management of femoroacetabular impingement.
BMC musculoskeletal disordersClinical Features, Risk Factors, and Outcomes Following Surgery for Late Intraocular Lens Decentration in the Dead Bag Syndrome.
American journal of ophthalmologyIris retractor-assisted optic capture of a 3-piece intraocular lens.
American journal of ophthalmology case reportsEffects of COVID-19 on short-term outcomes of hip arthroplasty: a multicenter, retrospective, propensity score matched study.
BMC musculoskeletal disordersThe Etiology of Intraocular Lens Dislocation and Changes in Intraocular Pressure After Intrascleral Intraocular Lens Fixation Surgery.
CureusIncreased Risk of Patellofemoral Instability Events and Surgical Management in Patients With Joint Hypermobility Syndromes: A Matched Cohort Analysis.
Arthroscopy, sports medicine, and rehabilitationThe effect of anterior disc displacement with polycystic ovarian syndrome on adolescent condylar bone remodeling.
BMC oral healthZonulopathies as Genetic Disorders of the Extracellular Matrix.
GenesSurgical excision of symptomatic lateral band snapping syndrome in small finger proximal interphalangeal joint.
BMJ case reportsTreatment of long finger metacarpophalangeal arthritis using HAPY® pyrocarbon interposition implants: a study of 34 cases.
Hand surgery & rehabilitation[Analysis of changes in the position of the temporomandibular joint articular disc during positioning splint therapy according to magnetic resonance imaging data].
StomatologiiaCirrhosis associated with increased complications and healthcare utilization following total shoulder arthroplasty.
Shoulder & elbowCotton Swab Couching of Dislocated Crystalline Lens in Marfan Syndrome.
JAMA ophthalmologyEvaluating the Association Between Vastus Medialis Oblique Characteristics and Patellar Instability: A Comprehensive Case-Control Study.
Sports healthUtility of routine X-ray surveillance following hip sonography for developmental dysplasia in children: a single-center study spanning a decade.
Archives of orthopaedic and trauma surgeryTorticollis in incomplete Kawasaki disease: a case of atlantoaxial rotatory fixation.
BJR case reportsA feasibility model for restructuring the role of the hand surgeon taking call at a level I trauma center.
Journal of hand and microsurgeryAssociações
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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.
- Atlantoaxial rotatory fixation.
- LONP1 Variants Are Associated With Clinically Diverse Phenotypes.
- CHARACTERIZING INTRAOCULAR LENS POSITION, STABILITY, AND IRIS MOBILITY IN EYES THAT HAVE UNDERGONE SUTURELESS INTRASCLERAL HAPTIC FIXATION.
- ASPH-related ectopia lentis revisited: genetic variability, clinical diversity, and evolving therapeutic approaches.
- Acute isolated traumatic anterior pisiform dislocation in an adult: A case report.
- [Grisel syndrome following Mycoplasma pneumoniae infection].
- The Grisel Syndrome: early interdisciplinary treatment needed to prevent severe upper cervical deformity - Experience from a high-volume spine center and systematic review of existing literature.
- Clinical Features, Risk Factors, and Outcomes Following Surgery for Late Intraocular Lens Decentration in the Dead Bag Syndrome.
- Surgical excision of symptomatic lateral band snapping syndrome in small finger proximal interphalangeal joint.
- [Heavy eye syndrome: clinical manifestations, diagnosis and treatment].
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2412(Orphanet)
- OMIM OMIM:601450(OMIM)
- MONDO:0011081(MONDO)
- GARD:1428(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55783172(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
