A artrogripose distal tipo 4 é uma síndrome hereditária de defeito de desenvolvimento caracterizada por múltiplas contraturas congênitas dos membros, sem doença neurológica e/ou muscular primária que afete a função dos membros, e uma escoliose leve a grave. A inteligência é normal.
Introdução
O que você precisa saber de cara
A artrogripose distal tipo 4 é uma síndrome hereditária de defeito de desenvolvimento caracterizada por múltiplas contraturas congênitas dos membros, sem doença neurológica e/ou muscular primária que afete a função dos membros, e uma escoliose leve a grave. A inteligência é normal.
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
+ 8 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 25 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
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
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 artrogripose-escoliose grave
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Prevalence and characteristics of scoliosis among ethiopian schoolchildren aged 6-15 Years: A school-based cross-sectional study.
Scoliosis is a progressive spinal deformity that often develops during childhood and adolescence. In Ethiopia, population-level prevalence data are scarce, and school-based screening, though practical, may overestimate cases without radiographic confirmation. Understanding its distribution and severity is critical for guiding clinical and public health strategies. To estimate the prevalence of scoliosis among Ethiopian schoolchildren, characterize its types and severity, and examine associations with clinical and anthropometric variables. A cross-sectional school-based screening was conducted from March 2024 to June 2025 across 42 public primary schools in six regions. Children aged 6-15 years were screened using the Adam's Forward Bend Test and scoliometer; suspected cases (ATR ≥ 7°) were referred for radiographic confirmation. Prevalence estimates and associations were analyzed using chi-square tests and t-tests. Data were analyzed in Python, with quality control ensured through standardized training, pilot testing, and double-entry verification. Of 32,000 children screened, 48 were suspected of scoliosis (0.15%; 95% CI: 0.11-0.20%), and 21 were radiographically confirmed (0.066%; 95% CI: 0.04-0.10%). Congenital scoliosis was most common (61.9%), with male predominance (69%), while idiopathic scoliosis (23.8%) was more frequent in females (60%). Neuromuscular and syndromic scoliosis were rare. Severity analysis showed male predominance in mild and very severe cases, with equal sex distribution in severe scoliosis. The mean Cobb angle was 47.4° (SD ± 28.9), most cases involved the thoracic spine (52.4%), and the rib hump was typically right-sided (61.9%). Cobb angle correlated positively with ATR (r = 0.61) and thoracic loss (r = 0.48), and negatively with age (r = -0.24) and thoracic height (r = -0.46). This study shows that scoliosis prevalence within the school population is low, with adolescent idiopathic cases markedly underrepresented compared to other school-based screening reports. These findings suggest that nationwide school screening programs are not recommended. Instead, efforts should prioritize strengthening diagnostic and referral pathways for clinically evident cases to ensure timely access to specialized care.
Distal arthrogryposis with impaired proprioception and touch: description of 9 additional cases harbouring novel PIEZO2 variants and literature review.
Mechanosensation is the ability to detect dynamic mechanical stimuli and is essential for many processes, including sense of touch on the skin. PIEZO2 is a functional ion channel assembled by three monomers and is an essential mechanotransducer for touch, proprioception, and interoception. Heterozygous pathogenic variants in PIEZO2 gene are associated with distal arthrogryposis type 3 (MIM:114300) and type 5 (MIM:108145), and with Marden-Walker Syndrome (MIM:248700). Recessive pathogenic variants in PIEZO2 are associated with distal arthrogryposis with impaired proprioception and touch (DAIPT) (MIM:617146). Papers describing patient cohorts in literature are few. Here we described 9 patients from 8 families with a very similar clinical picture characterized by neonatal respiratory distress, hypotonia, delayed motor development, sensory ataxia, foot deformities, hyperlaxity, progressive scoliosis, and skeletal contractures. We also carried out a review of patients reported in literature with recessive PIEZO2 variants. We retrospectively analyzed clinical and genetic results of 5 patients followed at Bambino Gesù Children Hospital and 4 patients followed at Neuropediatric Unit, Clinica Meds, Santiago, Chile. In our cohort, we identified nine patients harbouring PIEZO2 variants. Among them, eight patients carried single nucleotide variants (SNVs): three were compound heterozygous, two were homozygous, and two harboured two heterozygous variants of unknown allelic phase. Additionally, one other patient, who presented with a highly suggestive clinical phenotype, was found to harbour only a single heterozygous maternally inherited, frameshift variant. Only one patient was found to have a large homozygous copy number variant (CNV). Our cohort clinical phenotype, even though of variable severity, is highly concordant between the patients and literature data. To our knowledge this is one of the largest cohort of patients with recessive PIEZO2 variants so far.
Comparative effectiveness of intrathecal morphine versus erector spinae plane block for analgesia after scoliosis surgery: a retrospective analysis.
To compare the efficacy of analgesia techniques after idiopathic scoliosis surgery. Register data of scoliosis patients were analyzed between January 2020 and June 2023. Patients were divided into four groups: intravenous anesthesia (IA) only, Erector Spinae Plane Block (ESPB), Intra-Thecal Morphine (ITM) and association of ESPB + ITM. The primary outcome measure was morphine consumption median [interquartile range] at 24 h postoperatively. We also investigated morphine consumption at 48 and 72 h, pain scores, co-analgesic drugs, and specific complications: respiratory, cardiovascular, post-lumbar puncture syndrome. Among 119 patients, 52 (43.7%) received IA, 32 ESPB (26.9%), 9 ITM (7.6%) and 26 (21.8%) ITM + ESPB. Morphine consumption at 24 h was significantly (p < 0.001) reduced for patients with ITM: IA 51 mg (38-71), ESPB 46 mg (30-70), ITM 12 mg (7-29), ITM + ESPB 20 mg (10-28). This superior effect of ITM was sustained until 72 h for morphine consumption and pain scores. Compared to other techniques, the visual analog scale for pain assessment revealed a significant (p < 0.001) reduction by more than 2 points when using ITM within the first 24 postoperative hours, and lower median sufentanil doses were required during anesthesia. No postoperative complications occurred. In this retrospective cohort, ITM was associated with significantly reduced opioid use and improved pain scores. ESPB did not show a significant additive effect. These findings should be interpreted with caution due to the retrospective design and potential selection bias. Prospective randomized trials are needed to confirm these results. 3 - Retrospective study.
Platypnoea-orthodeoxia from kyphoscoliosis and diaphragmatic dysfunction without intracardiac shunt on transthoracic echocardiography.
Platypnoea-orthodeoxia syndrome (POS) is a rare cause of posture-dependent hypoxaemia, usually linked to intracardiac right-to-left shunts. We report an elderly woman with progressive dyspnoea and recurrent falls whose oxygen saturation fell from 95% supine to 84% upright. Imaging showed kyphoscoliosis with partial right hemi-diaphragmatic dysfunction. Supine and upright contrast transthoracic echocardiography demonstrated delayed bubble appearance, excluding an intracardiac shunt and suggesting an intrapulmonary mechanism. CT pulmonary angiography and Tc-99m macroaggregated albumin scintigraphy ruled out pulmonary arteriovenous malformations, indicating posture-dependent ventilation-perfusion mismatch as the cause. Comprehensive geriatric assessment identified frailty and limited physiological reserve, guiding conservative management with pulmonary rehabilitation and fall-prevention measures. This case emphasises the importance of postural pulse oximetry, sequential imaging and geriatric assessment in diagnosing POS in older adults and describes a rare extracardiac mechanism without cardiac or vascular shunting.
Heterozygous loss of OSR2 can cause radioulnar synostosis with ancillary skeletal manifestations.
Although radioulnar synostosis (RUS) and other skeletal anomalies are features of the 8q22.2q22.3 microdeletion syndrome, the precise genetic etiology of RUS remains undefined. Here, we aimed to define the genetic basis of joint fusion in this syndrome. We performed combined chromosomal microarray, high-throughput ligation-dependent probe amplification, and exome sequencing on RUS probands and families. Variant effects were assessed through structural modeling, Western blot, and immunofluorescence. Murine Osr2 knockout phenotypes were evaluated via literature review. A 383.28-kb heterozygous deletion at 8q22.2 (arr[GRCh37] 8q22.2(99903192_100286471)x1), completely encompassing OSR2 (HGNC:15830), was identified in a mother-son pair with RUS. Exome sequencing revealed OSR2 variants in 5 unrelated pedigrees: the nonsense variant c.481C>T p.(Arg161Ter) in 2 families, c.174T>A p.(Tyr58Ter) in 1 family, and 2 missense variants (c.628C>T p.(Arg210Trp) and c.628C>G p.(Arg210Gly), each in 1 family. Clinical reevaluation identified additional phenotypes, including distal ulna hypoplasia, joint stiffness, ear deformity, scoliosis, and short stature in individuals harboring OSR2 variants. Functional studies demonstrated loss-of-function mechanisms (absent/truncated protein or impaired nuclear localization). Literature showed Osr2 knockout mice phenocopied human joint fusion. This study links OSR2 haploinsufficiency or loss-of-function variants to RUS and other skeletal malformations.
Publicações recentes
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A rare variant of USP9X associated with female-restricted X-linked syndromic intellectual disability.
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📚 EuropePMCmostrando 199
Growth Guidance Surgery: Factors Associated With Complications.
SpineUpdate on Congenital Cranial Dysinnervation Disorders (CCDDs).
International ophthalmology clinicsPrevalence and characteristics of scoliosis among ethiopian schoolchildren aged 6-15 Years: A school-based cross-sectional study.
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Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsThoracic Aortic Aneurysm Following Blunt Trauma in a Patient with a Monoallelic SLC2A10 Variant: A Case Report.
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Human genome variationObstructive sleep apnea in community-dwelling polio survivors: a 5-year longitudinal follow-up study.
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Indian journal of orthopaedicsPoland's Scoliosis: A Case Report and Literature Review.
Indian journal of orthopaedicsA novel COL2A1 mutation in a Chinese family with predominantly ocular Stickler syndrome.
Frontiers in geneticsModern Luque Trolley technique in the surgical management of early onset scoliosis: a case report of a patient followed to maturity and final fusion.
Spine deformityNatural history study of scoliosis in patients with 22q11.2 deletion syndrome, starting before disease onset.
Spine deformityEndocrine metabolism characteristics of Alström syndrome in 25 Chinese patients and identification of a new splice site in the ALMS1 gene.
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JBJS case connectorIntraoperative Neurophysiological Monitoring in Patients With Marfan Syndrome Scoliosis.
Orthopaedic surgeryNovel pathogenic splicing mutation in COL11A1 in a patient with Stickler syndrome verified by minigene splicing assay.
Frontiers in geneticsGenetic diagnosis and clinical characteristics analysis of cardiospondylocarpofacial syndrome in a Chinese family.
Frontiers in pediatricsSpinal Cord Stimulation in an Elderly Patient With Severe Scoliosis and Failed Back Surgery Syndrome: A Case for Reconsidering Anatomical Contraindications.
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Brain & spineAnesthetic Management of a Pediatric Patient With Mitochondrial Depletion Syndrome and Hypertrophic Cardiomyopathy Undergoing Scoliosis Correction: A Case Report.
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CNS drugsHigh-Dose 8% Capsaicin Patch in Treatment of Chronic Neuropathic Back Pain in a Pregnant Woman: A Case Report.
Orthopedic reviewsOutcomes of Growth-Friendly Surgery and Posterior Spinal Fusion in Children With Rett Syndrome and Early Onset Scoliosis.
Journal of pediatric orthopedicsNovel heterozygous mutation in MYH3 causes contractures, pterygia, and spondylocarpostarsal fusion syndrome 1: A case report.
MedicineComparison of free-hand technique and patient-specific guiding template for pedicle screws positioning in adolescent idiopathic scoliosis surgery using neurophysiological monitoring.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietyShashi-Pena syndrome with late-onset specific hypogammaglobinaemia and autoimmune cytopenia.
BMJ case reportsPROMIS and ODI Tools: Clinically Useful Markers of Abnormal MRI Findings in Pediatric Patients with Back Pain.
The Journal of bone and joint surgery. American volumeOccipitocervical surgery rescue: The "Catcher's Mitt" technique.
Journal of craniovertebral junction & spinePredicting pulmonary function using thoracic deformity parameters in early onset scoliosis patients.
PloS oneGenotype-Phenotype Correlation and Therapeutic Amenability in a Cohort of Rett Syndrome Patients: A Single-Center Study.
CureusPURA syndrome-a genetic cause of a neurodevelopmental disorder-case report.
Frontiers in pediatricsBurden of disease and unmet needs associated with scoliosis in neurofibromatosis type 1: a systematic literature review.
JBMR plusSotos Syndrome With NSD1 Mutations in a Chinese Cohort: Identification of Two Novel Mutations and Literature Review.
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceMusculoskeletal deformities of Alström syndrome-a review of 55 cases.
Orphanet journal of rare diseasesWaardenburg Syndrome in a Family.
International journal of trichologyDeterminants of fatigue in patients with Marfan syndrome: a study using PROMS.
Orphanet journal of rare diseasesSurgical management of hiatal hernia in a 3-year-old child with asplenia syndrome, congenital heart disease, thoracic scoliosis, and intestinal malrotation: A case report.
International journal of surgery case reportsNeurologic outcomes in patients with skeletal dysplasias undergoing cervical fusion and occipitocervical fusion.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryLong-Term Pulmonary Function after Combined Anteroposterior Spinal Fusion for Scoliosis in Neurofibromatosis Type 1 and Marfan Syndrome at a Mean Follow-Up of 13 Years.
Revista brasileira de ortopedia[Long-Term Pulmonary Function after Combined Anteroposterior Spinal Fusion for Scoliosis in Neurofibromatosis Type 1 and Marfan Syndrome at a Mean Follow-Up of 13 Years].
Revista brasileira de ortopediaThe perioperative complications of vertebral body tethering : prevalence and predictive factors.
The bone & joint journalEARLYBIRD: catching the earliest changes of the bone and intervertebral discs in children at increased risk for scoliosis development with MRI - study protocol of a prospective observational cohort study.
BMJ openImpact of Dual Antibiotic Prophylaxis on 90-Day Surgical Site Infection Rates Following Posterior Spinal Fusion for Juvenile Scoliosis: A Single-Center Study of 296 Cases.
Medicina (Kaunas, Lithuania)Perspectives on quality-of-life priorities for caregivers and children with neuromuscular, syndromic, and skeletal dysplasia scoliosis: a CPCHILD questionnaire analysis.
Spine deformityJarcho-Levin Syndrome With Fatal Respiratory Failure.
Ochsner journalIdentification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans.
Genetics in medicine openClinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort.
Clinical geneticsThe Reclassification of a FBN1 Variant of Unknown Significance Associated With Marfan Syndrome Through Careful Clinical Correlation and Family-Based Evaluation.
Case reports in medicineAdolescent scoliosis in autism spectrum disorder: is it idiopathic or syndromic??
Journal of orthopaedic surgery and researchDo Rib-Based Anchors Impair Chest Wall Motion in Early Onset Scoliosis? - A Novel Investigation via Dynamic MRI.
Journal of pediatric orthopedicsClinical variability in individuals with ATR-X syndrome in the Netherlands.
European journal of medical geneticsThoracic outlet syndrome associated with cervicothoracic scoliosis.
Surgical neurology internationalFragile X syndrome: genetic and clinical profile in the Hong Kong Chinese population.
Hong Kong medical journal = Xianggang yi xue za zhiPartial 3q tetrasomy: Defining the syndrome, neocentromeres, and an additional case report.
European journal of medical geneticsOne-way self-expanding rods for early onset neuromuscular scoliosis: a two-year follow-up of an international cohort.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietyLate toxicity after upper abdominal radiotherapy in pediatric Wilms tumor and neuroblastoma survivors. A systematic review on behalf of SIOPEN and SIOP-RTSG.
Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and OncologyOne Year Results of the Randomized BiPOWR Trial Comparing the Spring Distraction System (SDS) and the One Way Self-Expanding Rod (OWSER) for the Correction of Neuromuscular and Syndromic Early Onset Scoliosis.
Journal of the Pediatric Orthopaedic Society of North AmericaComplex cardiac and orthopedic surgery in a 14-year-old with DiGeorge syndrome from a Jehovah's Witness household: A blood conservation approach.
PerfusionDeep clinical and genetic analysis of 17p13.3 region: 38 pediatric patients diagnosed using next-generation sequencing and literature review.
BMC medical genomicsHow to Apply the Sequential Correction Technique to Treatment of Congenital Cervicothoracic Scoliosis: A Technical Note and Case Series.
Orthopaedic surgeryA Novel EBP c.452A>G Mutation Identified in a Girl with Conradi-Hünermann-Happle Syndrome Presenting with Hydronephrosis.
The application of clinical geneticsOperative management of congenital early-onset scoliosis using the vertical expandable prosthetic titanium rib (VEPTR): a case series.
World journal of pediatric surgeryAspiration, respiratory complications, and associated healthcare resource utilization among individuals with Rett syndrome.
Orphanet journal of rare diseasesDevelopmental neurotoxicity of anesthetic etomidate in zebrafish larvae: Alterations in motor function, neurotransmitter signaling, and lipid metabolism.
Journal of hazardous materialsSelecting the Substantially Touched Vertebra as the Lowest Instrumented Vertebra in Spinal Surgeries for B3GALT6 -Related Disorders: Clinical Experience and Literature Review.
Orthopaedic surgeryClinical and Phenotypic Correlates of Mitral Valve Prolapse in Marfan Syndrome: The Cornell Aortic Aneurysm Registry.
Journal of the American Heart AssociationCase Report: Late diagnosis of McCune-Albright with severe kyphoscoliosis, acromegaly and tertiary hyperparathyroidism.
Frontiers in endocrinologyOutcomes of Virtually Assisted Personalized Tracheostomy Tubes for Congenital Airway Anomalies.
The LaryngoscopeAssociation of ring chromosome 18 and Prader-Willi syndrome: the first described case report.
Pediatric endocrinology, diabetes, and metabolismPsychometric Validation and Responsiveness of the Cross-culturally Adapted Traditional Chinese Version of the Early-onset Scoliosis Self-report Questionnaire (EOSQ-SELF).
Journal of pediatric orthopedicsHigh Preoperative Body Mass Index Is Associated With Implant Breakage in Patients Treated With Magnetically Controlled Growing Rods for Early-onset Scoliosis.
Journal of pediatric orthopedicsTriple-Rod Construct Approach for Severe Rigid Scoliosis: A Comprehensive Case Series.
CureusRare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis.
Journal of medical geneticsDifference in clinical presentation and surgical outcomes in pediatric and adult patients with Chiari malformation type 1: a single center retrospective study.
Acta neurochirurgicaSurgically Relevant Anatomy of Marfan Vertebrae.
Journal of pediatric orthopedicsShilla Growth Guidance Surgery for Early Onset Scoliosis: Predictors of Optimal Versus Suboptimal Performers.
Journal of pediatric orthopedicsThe Rare Syndrome Aicardi-Goutières 4: A Case Report and Literature Review.
Developmental neurobiologyA Case of Penttinen Syndrome With Radiographic Acroosteolysis From Age 3 Years.
American journal of medical genetics. Part AHeight loss with age in adults with Prader-Willi syndrome may result in artifactual increases in BMI.
Scientific reportsSeventeen-year outcome of surgical management of severe early onset kyphoscoliosis in a patient with arthrochalasia-type Ehlers-Danlos.
Spine deformityRadiographic and clinical findings associated with Klippel-Feil Syndrome: a case series.
Spine deformityA case report of Prader-Willi syndrome in a child with metabolic disorders and severe obstructive sleep apnea treated effectively with continuous positive airway pressure.
Translational pediatricsWhole Blood Multi-OMIC Analysis Is Effective in Clinical Interpretation of Splicing Aberrations in PLOD1 -Related Kyphoscoliotic Ehlers-Danlos Syndrome.
American journal of medical genetics. Part AA case report of non-lamin A/C dilated cardiomyopathy presenting in a patient with Najjar-Malouf syndrome.
European heart journal. Case reportsAase-Smith syndrome type 2 with new neurological findings.
Oxford medical case reportsCase Report: Gingival Hyperplasia and Scoliosis as Additional Features of EMC10-Related Neurodevelopmental Disorder.
Clinical genetics[Surgical outcomes and prognostic analysis of congenital cervicothoracic scoliosis with Klippel-Feil syndrome].
Zhonghua wai ke za zhi [Chinese journal of surgery]Effects of a Supervised-As-Needed Home Exercise Program on Scoliosis and Motor Function in Rett Syndrome: A Multiple-Baseline Study.
Journal of clinical medicineConsiderations on the terminology used to describe trunk deviations, including camptocormia and pisa syndrome: Reply to the comment made by Dupeyron et al on our article Tourette et al. Atrophy of posterior spinal muscles in aging women with painful idiopathic lumbar or thoracolumbar scoliosis: Case-control study analyzing camptocormia. DOI: 10.1016/j.rehab.2024.101896 - This issue.
Annals of physical and rehabilitation medicineMotion attenuation surgery in the degenerative lumbar spine: Is cement discoplasty a safe and effective option?
Brain & spineWhat can we learn from scoliosis in children with the 22q11.2 deletion syndrome? Prognostic factors at pre-adolescent age for fast progressive, mild and self-resolving forms during adolescence.
Spine deformityAn Artificial Intelligence Approach to the Craniofacial Recapitulation of Crisponi/Cold-Induced Sweating Syndrome 1 (CISS1/CISS) from Newborns to Adolescent Patients.
Diagnostics (Basel, Switzerland)The FHL1 myopathy spectrum revisited: a literature review and report of two new patients.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of MyologyCerebellar Ataxia, Impaired Intellectual Development, and Disequilibrium Syndrome-2: A Case Report.
CureusOutpatient Management of Clinical Comorbidities in Children With Cerebral Palsy in Low- and Middle-Income Countries.
Child: care, health and developmentA case of massive hematoma: reflections on hypermobile Ehlers-Danlos syndrome.
Frontiers in medicineImpact of mild leg length discrepancy on pelvic alignment and gait compensation in children.
Gait & postureComprehensive review and outline of genotypes and phenotypes of Arboleda-Tham syndrome spectrum: insights from novel variants.
Molecular biology reportsSevere Osteoporosis in an Adult Subject with RNU4-2 Gene Mutation.
Calcified tissue internationalSuperior mesenteric artery syndrome and nutcracker syndrome in a patient with pectus carinatum and spine scoliosis.
BMJ case reportsMinimally Invasive Bipolar Technique for Scoliosis in Rett Syndrome-Results and Complications in a Series of 22 Cases.
Journal of clinical medicineEvaluation and Treatment of Thoracic Insufficiency Syndrome and Early-Onset Scoliosis.
Journal of clinical medicineFirst instance of pain in congenital pain insensitivity with anhidrosis.
Clinical neurology and neurosurgeryAssociações
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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.
- Prevalence and characteristics of scoliosis among ethiopian schoolchildren aged 6-15 Years: A school-based cross-sectional study.
- Distal arthrogryposis with impaired proprioception and touch: description of 9 additional cases harbouring novel PIEZO2 variants and literature review.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society· 2026· PMID 41780226mais citado
- Comparative effectiveness of intrathecal morphine versus erector spinae plane block for analgesia after scoliosis surgery: a retrospective analysis.
- Platypnoea-orthodeoxia from kyphoscoliosis and diaphragmatic dysfunction without intracardiac shunt on transthoracic echocardiography.
- Heterozygous loss of OSR2 can cause radioulnar synostosis with ancillary skeletal manifestations.Genetics in medicine : official journal of the American College of Medical Genetics· 2026· PMID 41424369mais citado
- [Rehabilitation of patients with vertebrogenic muscular-tonic and radicular syndromes].
- A rare variant of USP9X associated with female-restricted X-linked syndromic intellectual disability.
- Adolescent scoliosis in autism spectrum disorder: is it idiopathic or syndromic??
- Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:65720(Orphanet)
- OMIM OMIM:609128(OMIM)
- MONDO:0012195(MONDO)
- GARD:16672(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
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.
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