Introdução
O que você precisa saber de cara
Síndrome de Waardenburg é um grupo de condições genéticas raras caracterizadas por pelo menos algum grau de perda auditiva congênita e deficiências de pigmentação, que podem incluir olhos azuis brilhantes, uma mecha branca de cabelo ou manchas de pele clara. Essas características básicas constituem o tipo 2 da condição; no tipo 1, também há uma distância maior entre os cantos internos dos olhos, chamada telecanto, ou distopia cantorum. No tipo 3, que é raro, os braços e as mãos também são malformados, com contraturas permanentes dos dedos ou dedos fundidos, enquanto no tipo 4, a pessoa também tem a doença de Hirschsprung. Existem também pelo menos dois tipos que podem resultar em sintomas do sistema nervoso central (SNC), como atraso no desenvolvimento e anormalidades do tônus muscular.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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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
+ 13 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 36 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 Pierre Robin-contraturas-perturbação do desenvolvimento
Centros de Referência SUS
13 centros habilitados pelo SUS para Síndrome Pierre Robin-contraturas-perturbação do desenvolvimento
Centros para Síndrome Pierre Robin-contraturas-perturbação do desenvolvimento
Detalhes dos centros
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
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.
Publicações mais relevantes
Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
Stickler syndrome is a monogenic connective tissue disorder primarily caused by pathogenic variants in collagen-related genes, most commonly COL2A1. Prenatal diagnosis remains challenging, particularly in healthcare systems with limited access to molecular genetic testing. We report a prenatal case of suspected craniofacial anomaly detected on second-trimester ultrasound. Fetal DNA obtained by amniocentesis underwent next-generation sequencing. Parental testing was performed to assess inheritance. It was confirmed that autosomal dominant Stickler syndrome type I (ORPHA:90653) was caused by a heterozygous pathogenic frameshift variant in COL2A1 (c.3137del) that was inherited from the mother and identified in the fetus. Micrognathia was identified during prenatal ultrasound, and postnatal evaluation revealed characteristics that were consistent with Pierre Robin sequence and connective tissue involvement. The molecular discoveries elucidated the observed phenotype and facilitated multidisciplinary perinatal management. This case underscores the indispensable function of molecular diagnostics in the prenatal identification of monogenic disorders, including Stickler syndrome, in cases where conventional karyotyping is inadequate. Targeted clinical surveillance and family counseling are facilitated by early genetic confirmation. The report also emphasizes the necessity of incorporating molecular diagnostics into routine prenatal care for rare genetic diseases and the systemic limitations in access to genomic testing. Although the identified variant has been previously reported, this case highlights the clinical and diagnostic value of prenatal molecular confirmation in a resource-limited healthcare setting.
Cervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.
Pierre-Robin syndrome (PRS) is a disorder characterized by mandibular hypoplasia, leading to upper airway obstruction and feeding difficulties due to backward displacement of the tongue (glossoptosis). Cervical diastematomyelia is another rare congenital condition in which the spinal cord splits into two hemicords at the level of the cervical spine. We report a unique case of a 6-month-old boy who has cervical diastematomyelia and PRS. At birth, our patient had mandibular hypoplasia, respiratory distress, a posterior parietal region swelling, and reduced tone in all four limbs. On current examination, he now also has left-sided torticollis along with the findings mentioned at birth. Imaging demonstrated features consistent with an atretic parietal cephalocele, enlarged cerebellum in comparison with age-matched group, and short segment type II diastematomyelia in the proximal cervical spinal cord. In patients with these complex congenital anomalies, improving outcomes requires early detection and tailored management strategies.
Charles Bonnet Syndrome: associations between psychosocial measures and visual hallucination characteristics in the visually impaired.
The emotional response to Charles Bonnet Syndrome (CBS) (visual hallucinations in individuals with sight loss) is associated with negative affect, suggesting a link between psychological measures and hallucination characteristics. This study set out to investigate whether the association extends to a broader range of hallucination attributes and psychological measures, taking into account clinical factors likely to influence such associations. 70 participants with self-reported CBS completed an online survey assessing hallucination attributes of frequency, duration, emotional valence, distress, level of control over hallucinations and impact on quality of life (QoL). Anxiety and depression were measured using the Hospital Anxiety and Depression Scale while loneliness was assessed using the University of California Los Angeles (UCLA) Loneliness Scale. All three measures were combined as a mental health factor. Regression models tested relationships between hallucination attributes and mental health, controlling for age, sex assigned at birth, years of sight loss, years experiencing hallucinations, presence of migraine and visual field loss. All visual hallucination attributes except level of control were associated with the mental health factor; higher factor scores were associated with more frequent, longer lasting, more unpleasant and more distressing hallucinations and also with a more negative impact of hallucinations on QoL. These associations were independent of years of sight loss and CBS. Mental health measures are linked to a wider range of CBS attributes than previously recognised, with greater clinical attention required to identify people with CBS who are experiencing psychological difficulties to help provide appropriate treatment and support. The study did not include a control group of visually impaired participants without hallucinations and has an uneven representation across age and gender with a small sample size for the sub-group analysis. The study relied on self-reported online data without clinical assessment; details of participants' medication use were not collected.
Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.
Europe's Beating Cancer Plan is a substantial European Union (EU) investment into cancer prevention and treatment. Integration of genetic services towards personalised cancer prevention and care is a flagship of this plan. Genetic counselling is critical to this integration, facilitating informed patient decision making and improved clinical management. However, growing demands for genetic testing and concurrently increasing workforce shortages necessitate new strategies to equitably ensure sustainable access to counselling across the EU. This project aimed to inform future European activities by identifying priority European strategies for addressing common European genetic literacy, workforce, and reimbursement barriers to genetic counselling in cancer noted in prior work. A Delphi survey was conducted, with genetics, oncology, and patient stakeholders invited from all EU Member States. The response rate was 62% (124 total invitations). Over three phases, 77 participants - 28 geneticists; 14 oncologists; 18 genetic counsellors; 16 patient representatives; 1 otherwise qualified expert - rated 19 strategies according to their Importance, Urgency, and Feasibility and selected their top three priority strategies. Five strategies met pre-defined consensus thresholds and received a clear plurality of priority ratings: (1) EU-wide genetic counsellor recognition; (2) Including genetics expertise in oncology guideline creation; (3) Shared EU genetic counsellor registration/education with legal weight; (4) Mandatory counselling reimbursement when clinical guidelines are met; (5) Mandatory inclusion of genetics in oncology fellowship/continuing education. Results provide a roadmap of European actions which promise to sustainably improve access to genetic counselling in cancer care. Upcoming and ongoing EU projects promise to advance their implementation.
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.
Twinkle, encoded by the TWNK gene, is a mitochondrial DNA helicase that unwinds the double helix of DNA during replication, playing a pivotal role in mitochondrial function. Twinkle-related disorders encompass a variety of genetic disorders characterized by mitochondrial dysfunction. Although several phenotypes have been described, the full clinical and molecular spectrum remains poorly defined. The aim of this study was to characterize the phenotypic and genotypic variability among multinational patients diagnosed with Twinkle-related disorders. A retrospective cohort study was conducted in patients with Twinkle-related disorders at several specialized centers in Italy, France, Germany, Spain, Denmark, Hungary, and the United States, establishing the Twinkle-Related Disorders International Consortium for Trial Readiness (TReDIC). Data were collected from medical records, including clinical features, age at onset, disease progression, and results from genetic testing. Phenotypic categories included infantile-onset cerebellar ataxia, parkinsonism, primary mitochondrial myopathy (PMM), multisystem involvement, asymptomatic carriers, undetermined phenotypes, and other phenotypes. All patients' diagnoses were confirmed by genetic analysis, and their genetic variants were noted. Outcomes included prevalence of phenotypes, symptom chronology, and mutational patterns. The study included a total of 189 patients (116 female), with a mean age at symptom onset of 40.3 years. At the time of analysis, 70.4% were alive. PMM was the predominant syndrome (85.2%), and most common features were progressive external ophthalmoplegia (84.7%) and skeletal myopathy (55.6%), followed by hearing loss (17.5%) and psychiatric symptoms (15.3%). Most patients (76.8%) presented with neuromuscular symptoms, with fewer showing CNS (19.6%) or multiorgan (3.6%) features at onset; by more than 8 years from onset, these proportions shifted to 54.4%, 23.3%, and 23.3%, respectively. A total of 73 TWNK variants (16 novel) were found, mostly missense, clustered in functionally critical regions. This large multinational cohort analysis advances our understanding of Twinkle-related disorders by identifying mutational hotspots with clinical relevance and illustrating the broad phenotypic spectrum and progression patterns. In the context of such rare diseases, the formation of international collaborations, such as TReDIC, can enhance our understanding and support the design of upcoming clinical trials.
Publicações recentes
Revision alloplastic temporomandibular joint reconstruction for re-advancement in syndromic ankylosis: a case report involving simultaneous Klippel-Feil syndrome and Pierre Robin sequence.
Orthodontic Appliance-Related Mucosal Ulcerations in Newborns and Infants With Craniofacial Disorders.
Navigating Airway Obstacles: Effective Anesthesia Strategies for Severe Robinson Sequence in a 3 year old.
Benefit/risk balance of prone positioning as first line treatment for upper airway obstruction in Robin sequence.
Characterizing Differences in Polysomnography Data for Children With Robin Sequence Undergoing Conservative and Surgical Management.
📚 EuropePMCmostrando 199
Gestational diabetes mellitus in women with polycystic ovary syndrome.
Diabetes & metabolismThe complexity of pain in inflammatory arthropathies beyond pain intensity and impact: An OMERACT initiative.
Seminars in arthritis and rheumatismA De Novo Variant in NALCN Associated With Arthrogryposis and Neonatal Respiratory Failure: A Case Report.
Pediatric pulmonologymPFC pyramidal neuron synchrony during social competition to form social rankings is disrupted in male Mecp2 knockout mice.
bioRxiv : the preprint server for biologyPrenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
International journal of molecular sciencesCervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.
Surgical neurology internationalCharles Bonnet Syndrome: associations between psychosocial measures and visual hallucination characteristics in the visually impaired.
BMJ open ophthalmologyRetinal detachment in patients with Sticklers syndrome: A comprehensive analysis for craniofacial surgeons.
JPRAS openMorphometric Findings in Adolescents with Robin Sequence: A Photographic and Cephalometric Study of the Face and Mandible.
Children (Basel, Switzerland)Revision alloplastic temporomandibular joint reconstruction for re-advancement in syndromic ankylosis: a case report involving simultaneous Klippel-Feil syndrome and Pierre Robin sequence.
Oral and maxillofacial surgeryPermanent Catheter Placement for Recurrent Pericardial Effusions in the Presence of Dense Adhesions and Loculations.
CureusPriority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.
European journal of human genetics : EJHGCharacterizing Secondary Velopharyngeal Surgery in Children With Cleft Palate at an Academic Center.
The LaryngoscopeA randomised, placebo-controlled trial in healthy humans of modified cellulose or psyllium evaluating the role of gelation in altering colonic gas production during inulin co-administration.
Food & functionMetabolic syndrome and immune-related adverse events.
Cancer immunology, immunotherapy : CIIOrthodontic Appliance-Related Mucosal Ulcerations in Newborns and Infants With Craniofacial Disorders.
Clinical and experimental dental researchClinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.
NeurologyAssociated congenital malformations, syndromes, and medical conditions in patients with orofacial clefts: a 10-year hospital-based study in Thailand.
Frontiers in oral healthNavigating Airway Obstacles: Effective Anesthesia Strategies for Severe Robinson Sequence in a 3 year old.
The Medical journal of MalaysiaBenefit/risk balance of prone positioning as first line treatment for upper airway obstruction in Robin sequence.
European journal of pediatricsSpeech Results in 10-Year-Old Children With Isolated Cleft Palate.
The Journal of craniofacial surgeryChanges in anti-mullerian hormone levels after recovery from functional hypothalamic amenorrhea: a retrospective cohort study about women with and without polycystic ovarian morphology.
Reproductive biology and endocrinology : RB&ECatch-Up Growth in Syndromic Robin Sequence: A Systematic Review.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationManagement of Obstructive Sleep Apnea in Children With Cleft Palate and/or Velopharyngeal Insufficiency: A Primer on Screening, Testing, and Treatment.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationPEEP-AKI-COVID ICU: Effect of positive end-expiratory pressure on acute kidney injury development in patients with COVID-19-associated acute respiratory distress syndrome: an ancillary analysis of the COVID-ICU study.
Journal of intensive careImaging of Congenital and Developmental Conditions of the Temporomandibular Joint.
Neuroimaging clinics of North AmericaLateral mandibular ridge: A unique feature of the auriculocondylar syndrome.
European journal of radiologyCharacterizing Differences in Polysomnography Data for Children With Robin Sequence Undergoing Conservative and Surgical Management.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryNutritional Needs and Growth Patterns in Patients With Robin Sequence Following Mandibular Distraction Osteogenesis.
Annals of plastic surgeryDiagnostic Challenges in Antiphospholipid Antibody-Associated Chorea: A Case Report.
Case reports in neurological medicineGenetic Landscape of Robin Sequence: A Systematic Review.
Clinical geneticsPharyngeal Arches, Chapter 3: Craniofacial Syndromes.
The Journal of craniofacial surgeryTransplantation in patients with lower-risk MDS: a prospective phase 2 trial based on donor availability.
Blood advancesClinical Outcomes of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Based on Hospital Admission Type.
CutisThree New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.
Clinical geneticsPrevalence and treatment of facet syndrome in patients with lumbar spinal stenosis managed with posterior lumbar vertebral spinal stabilization FFX® facet cages.
Journal of craniovertebral junction & spineFeasibility of High-Resolution Oximeter Plus Actigraphy Combined with a Cloud-Based Algorithm for the Detection of Obstructive Sleep Apnea in Children with Craniofacial Anomalies.
Sleep science (Sao Paulo, Brazil)The B-lymphoblastoid model in Barth syndrome.
Biochimica et biophysica acta. Molecular and cell biology of lipidsWhat Factors Affect Safe Bedside Extubation After Mandibular Distraction?
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationExploring stickler syndrome through a familial case: Beyond Robin sequence.
Pediatrics and neonatologyCustomized feeding plate for nutritional and respiratory support in an infant with Pierre Robin sequence and cleft palate complicated by severe respiratory infections: A case report.
Narra JAllogeneic hematopoietic stem cell transplantation in patients with germ line DDX41 mutated myeloid malignancies.
Blood advancesCognitive and Behavioral Characteristics of Children with Robin Sequence Associated with Stickler Syndrome: A Case Series.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationConditioning intensity in myelodysplastic patients aged ≥ 50 years undergoing allogeneic hematopoietic cell transplantation (allo-HCT): a study on behalf of the chronic malignancies working party of the EBMT.
Bone marrow transplantationPtip and the Trr-COMPASS-like Complex Regulate Cardiac Progenitor Cell Division in the Drosophila Embryonic Heart Tube.
International journal of molecular sciencesOrthodontic Perspectives in the Interdisciplinary Management of Pediatric Obstructive Sleep Apnea.
Children (Basel, Switzerland)Application of four-section approach for prenatal diagnosis of Pierre robin sequence.
Journal of medical ultrasonics (2001)Knowledge, Attitudes, and Practices of Neonatologists on Palatal Prostheses for Airway and Feeding in Pierre Robin Syndrome: A Nationwide Survey.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationPathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
Genetics in medicine : official journal of the American College of Medical GeneticsTranscatheter Tricuspid Valve Replacement Beyond Boundaries.
JACC. Case reportsMapping of genotype-by-environment interaction loci for Metabolic Syndrome-like traits using the multi-parent Drosophila Synthetic Population Resource determines that main genetic effects are distinct from environment dependent plastic loci.
bioRxiv : the preprint server for biologyAmerican College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel.
Arthritis & rheumatology (Hoboken, N.J.)Oral decitabine and cedazuridine maintenance after haematopoietic stem-cell transplantation in very high-risk acute myeloid leukaemia or myelodysplastic syndrome (GFM-DACORAL-DLI): a multicentre, single-arm, phase 2 trial.
The Lancet. Haematology[Clinical phenotype and genotypic analysis of a four-generation Chinese pedigree affected with Stickler syndrome and a literature review].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsLong-Term Occlusal Outcomes for Conservative Management in Patients With Robin Sequence.
The LaryngoscopeAdverse Events Following Palatoplasty in Patients With Robin Sequence: The Impact of Prior Airway Treatment.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationAravind Pseudoexfoliation Study (APEX): 10-Year Postoperative Results.
American journal of ophthalmologyA Single Institution Comparison of Speech Outcomes Following Palatoplasty in Stickler Syndrome.
Annals of plastic surgerySafety and Immunogenicity of Monovalent Omicron KP.2-Adapted BNT162b2 COVID-19 Vaccine in Adults: Single-Arm Substudy from a Phase 2/3 Trial.
Infectious diseases and therapyNovel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy.
Human molecular geneticsSpecial considerations for international weight standards for cleft surgery: presurgical optimisation in a patient with femoral-facial syndrome.
BMJ case reportsNavigation-Guided Cochlear Implantation in Complex Congenital Ear Anomalies: Pierre Robin Syndrome With External Aural Atresia and Middle Ear Agenesis.
The Journal of craniofacial surgeryThe Impact of Activated Phosphoinositide 3-Kinase δ Syndrome (APDS) on Health-Related Quality of Life (HRQoL): Elicitation of Health State Utility Values Through Time Trade-Off (TTO) and EQ-5D.
Advances in therapyOral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort.
Orphanet journal of rare diseasesChromosome 3q22.2-q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, Pierre Robin Sequence, and Recurrent Infections.
American journal of medical genetics. Part ADevelopment of a Novel Diagnostic Modality for Upper Airway Obstruction in Neonates.
The LaryngoscopeToxicological concerns regarding glyphosate, its formulations, and co-formulants as environmental pollutants: a review of published studies from 2010 to 2025.
Archives of toxicologySpeech Outcomes After Secondary Furlow Z-Plasty and Pharyngeal Flap Procedure.
The Journal of craniofacial surgeryUse of the preepiglottic baton plate for treatment of tongue-based obstruction in newborns with Robin sequence.
Current opinion in otolaryngology & head and neck surgerySemi-automated three-dimensional analysis of maxillary anomalies in patients with Muenke syndrome, Saethre-Chotzen syndrome or TCF12-related craniosynostosis: A retrospective study.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryAndrogens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.
medRxiv : the preprint server for health sciencesMultidisciplinary approach to airway management in Pierre Robin sequence: beyond tracheostomy.
International journal of pediatric otorhinolaryngologyA Challenge in Perioperative Anesthetic Management: A Case Report of an Infant With Concurrent Ullrich Congenital Muscular Dystrophy and Pierre Robin Sequence.
CureusChildhood trauma associations with changes in body mass index over 12 months of treatment in first-episode schizophrenia spectrum disorders.
Schizophrenia researchThe challenge of assessing upper airway obstruction severity in infants with Robin Sequence.
Sleep medicineGnRH ability to release FSH and LH in women with functional hypothalamic amenorrhea: a retrospective cohort study about women with and without polycystic ovarian morphology.
Gynecological endocrinology : the official journal of the International Society of Gynecological EndocrinologyAdjunctive use of cannabidiol in pediatric drug-resistant epilepsy: A retrospective multicenter analysis.
Epilepsy & behavior : E&BPatient Outcomes in Mandibular Distraction Based on Timing of Feeding Initiation.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryCOG6-related prenatal phenotype (CDG2L): Clinico-pathological report and review of the literature.
Molecular genetics & genomic medicineCharacterizing Mandibular Morphology in Robin Sequence-A 3D Statistical Shape Analysis.
The Journal of craniofacial surgeryEpidemiology and Incidence of Pierre Robin Sequence in the Maltese Islands: A Population-Based Study.
The Journal of craniofacial surgeryMassive tubular ectasia of the rete testes in a patient with Marfan syndrome.
Urology case reportsRisk Factors for Obstructive Sleep Apnea in Patients With Cleft Palate.
Annals of plastic surgerySystematic Review of Safety and Efficacy of Positional Therapy as First-line Management for Robin Sequence.
The Journal of craniofacial surgeryA Randomized Crossover Trial to Evaluate the Effect of Positioning on Obstructive Sleep Apnea in Infants with Robin Sequence.
Children (Basel, Switzerland)Sleep-Disordered Breathing and Central Respiratory Control in Children: A Comprehensive Review.
Children (Basel, Switzerland)AAV9-cBIN1 gene therapy rescues chronic heart failure due to ischemic cardiomyopathy in a canine model.
Communications medicineOrganization of Prenatal Care in Orofacial Clefts and Suspected Robin Sequence: A European Survey.
The Journal of craniofacial surgeryFemoral-facial syndrome in a Black Bantu African preterm infant: a case report.
Journal of medical case reportsDiagnosis and treatment of Diamond-Blackfan anemia and Pierre-Robin sequence caused by a novel mutation of RPS28 gene.
Hematology (Amsterdam, Netherlands)Towards Reaching Consensus in the Diagnosis and Management of Infants With Robin Sequence.
Acta paediatrica (Oslo, Norway : 1992)Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study.
Orphanet journal of rare diseasesCleft palate surgery and speech outcomes in children with Robin sequence.
Paediatric respiratory reviewsFetal alcohol spectrum disorder and health professionals' awareness of the syndrome: A comparison of practitioners' knowledge in two french regions.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieA Comprehensive Approach to Robin Sequence.
Clinics in plastic surgeryClinical-genomic profiling of MDS to inform allo-HCT: recommendations from an international panel on behalf of the EBMT.
BloodEfficacy and outcomes of long-term non-invasive ventilation in children with Robin sequence.
Sleep & breathing = Schlaf & AtmungRobin Sequence: From Dilemmas to Developing an Adaptable Standardized Stepwise Approach.
Acta paediatrica (Oslo, Norway : 1992)Robin Sequence and Isolated Cleft Palate are Associated With a High Prevalence of Obstructive Sleep Apnea in School-Aged Children.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationThe oral and maxillofacial manifestations of Stickler syndrome: A systematic review.
Journal of stomatology, oral and maxillofacial surgeryFocused Investigation of Facial Nerve Dysfunction After Mandibular Distraction Osteogenesis for Robin Sequence.
The Journal of craniofacial surgeryMandibular Distraction Osteogenesis vs. Tracheostomy in the Management of Pierre Robin Sequence: A Systematic Review and Meta-Analysis.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationCBCT-Based Analysis of Factors Influencing the Quality of New Bone Formation Following Mandibular Distraction Osteogenesis in Children With Pierre Robin Sequence.
The Journal of craniofacial surgeryDiffusion tensor imaging with free-water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I.
Journal of inherited metabolic diseaseNeurodevelopmental impairment in children with Robin sequence: A systematic review and meta-analysis.
Early human developmentSimultaneous death of two siblings, a Senna matter?
Toxicon : official journal of the International Society on ToxinologyExperience of General Anesthesia for Glossopexy in Infants With Robin Sequence.
Anesthesia progressNear-Normalized Maxillomandibular Relationship and Upper Airway in Infants with Robin Sequence Treated with Stanford Orthodontic Airway Plate: Computed Tomography Study.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationOphthalmic Manifestations in a Diverse Pediatric Population with Type I and Type II Stickler Syndrome.
Ophthalmology. RetinaTP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers.
Journal of the National Cancer InstituteBi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism.
European journal of human genetics : EJHGHeterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies.
European journal of human genetics : EJHGRole of polysomnography in the management of obstructive sleep apnea during the first year of life in robin sequence: A prospective and longitudinal study.
Sleep medicineMicrognathia and cleft palate as a cause of obstructive sleep apnoea in infants.
Acta paediatrica (Oslo, Norway : 1992)Robin Sequence: Neonatal Management.
NeoReviewsDebunking the Myth: Should Pierre Robin be Credited for Defining the Pierre Robin Sequence?
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery[CHARGE syndrome in a neonate].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsComparative Effectiveness of Preepiglottic Baton Plates and Mandibular Distraction in Infants with Robin Sequence.
Plastic and reconstructive surgerySpeech Outcomes in Children with Robin Sequence Treated with a Pre-Epiglottic Baton Plate.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationRole of Nasopharyngeal Airway in Management of Craniofacial Syndrome-Associated Upper Airway Obstruction in Children.
Orthodontics & craniofacial researchPrevalence and clinical value of autoantibodies directed against lysobisphosphatidic acid in antiphospholipid syndrome.
Rheumatology (Oxford, England)Combined MRI, high-resolution manometry and a randomised trial of bisacodyl versus hyoscine show the significance of an enlarged colon in constipation: the RECLAIM study.
GutInotuzumab Ozogamicin and Low-Intensity Chemotherapy in Older Patients With Newly Diagnosed CD22+ Philadelphia Chromosome-Negative B-Cell Precursor Acute Lymphoblastic Leukemia.
Journal of clinical oncology : official journal of the American Society of Clinical OncologyFunctional hypothalamic amenorrhoea and polycystic ovarian morphology: a narrative review about an intriguing association.
Human reproduction updateExploring cyclic vomiting syndrome (CVS) worldwide: Current epidemiological insights and recent developments.
Neurogastroenterology and motilityCost Analysis of Avoiding Gastrostomy Tube in Robin Sequence Neonates that Undergo Mandibular Distraction.
The LaryngoscopeDiagnosis and Early Management of Robin Sequence.
Children (Basel, Switzerland)Ancient developmental genes underlie evolutionary novelties in walking fish.
Current biology : CBBenchmarking whole exome sequencing in the German network for personalized medicine.
European journal of cancer (Oxford, England : 1990)Velopharyngeal insufficiency after cleft palate repair in patients with isolated Robin sequence versus isolated cleft palate: A systematic review.
JPRAS openG-tube placement in patients with robin sequence undergoing mandibular distraction osteogenesis: A multi-institutional review.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryNon-operative interventions for Pierre-Robin sequence: A systematic review and meta-analysis.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryPostoperative respiratory difficulties following primary cleft palate repair in infants with Robin sequence versus isolated cleft palate: A retrospective study.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryQuality of Life Among Hospitalized Fibromyalgia Older Adults: a Case-Control Study.
Canadian geriatrics journal : CGJModified nasopharyngeal airway for pressure support ventilation in airway management of a case of Robin sequence with bilateral temporomandibular joint ankylosis.
BMJ case reportsDoes Mandibular Distraction Osteogenesis for Robin Sequence Create Altered Craniofacial Morphology and Disrupt Tooth Development?
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsAirway Management May Not Improve in Adult Patients With Pierre Robin Sequence: A Case Report.
A&A practiceCurrent challenges in conditioning regimens for MDS transplantation.
Blood reviewsERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome.
European journal of human genetics : EJHGSensory-Motor-Oral Stimulation Combined with Early Sucking During the Mandibular Distraction Osteogenesis Process in Children with Robin Sequence.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationAirway management in infants with Robin sequence in the United Kingdom and Ireland: A prospective population-based study.
Pediatric pulmonologyRe Systematic review and meta-analysis of surgical approaches for improving airway stability in infants with Robin Sequence: evaluating complications and outcomes'.
The British journal of oral & maxillofacial surgeryRe: re: Systematic review and meta-analysis of surgical approaches for improving airway stability in infants with Robin Sequence: evaluating complications and outcomes.
The British journal of oral & maxillofacial surgeryWhole phenotype of patients with systemic sclerosis and sicca manifestations: Comparison with sicca manifestations from other causes.
Seminars in arthritis and rheumatismNonsurgical improvement of severe upper airway obstruction in infants with Robin sequence and cleft palate using Stanford orthodontic airway plate treatment.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineImpact of intensive prone position therapy on outcomes in intubated patients with ARDS related to COVID-19.
Annals of intensive careA prognostic model for use before elective surgery to estimate the risk of postoperative pulmonary complications (GSU-Pulmonary Score): a development and validation study in three international cohorts.
The Lancet. Digital healthMandibular distraction osteogenesis in children with Pierre Robin sequence: long-term analysis of teeth and jaw growth.
The British journal of oral & maxillofacial surgeryPresurgical Reduction of the Cleft Palate: Serendipitous Benefit of the Stanford Orthodontic Airway Plate Treatment (SOAP) for Infants with Robin Sequence.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationBrexucabtagene autoleucel for relapsed or refractory mantle cell lymphoma in the United Kingdom: A real-world intention-to-treat analysis.
HemaSphereJaw Thrust: A Simple Predictor of Success in Mandibular Distraction Osteogenesis.
The Journal of craniofacial surgerySystematic review and meta-analysis of surgical approaches for improving airway stability in infants with Robin sequence: evaluating complications and outcomes.
The British journal of oral & maxillofacial surgeryEvaluation of hard palate and cleft morphology in neonates with Pierre Robin Sequence and Cleft Palate Only.
Orthodontics & craniofacial researchLeptomeningeal carcinomatosis from breast cancer initially mimicking cerebral infarction on MRI.
Radiology case reportsPre-Epiglottic Baton Plate in Newborns With Pierre Robin Sequence: Revisiting the Practical Workflow.
The LaryngoscopeDoes IPSS-R downstaging before transplantation improve the prognosis of patients with myelodysplastic neoplasms?
BloodMandibular Distraction in Patients With Pierre Robin Sequence: A Multisurgeon Experience.
Annals of plastic surgeryPrognostic Risks for Tracheostomy in Pierre Robin Sequence: A Cohort From a Tertiary Hospital in Thailand.
Annals of plastic surgeryImpact of upper airway obstruction management in Robin Sequence on need for myringotomy tubes.
International journal of pediatric otorhinolaryngologyPre-Operative Characteristics Helping to Avoid Gastrostomy Tube After Mandibular Distraction in Neonates With Pierre-Robin Sequence: A Institutional Case-Series and Review of the Literature.
The Annals of otology, rhinology, and laryngologyAntiviral medications for preventing cytomegalovirus disease in solid organ transplant recipients.
The Cochrane database of systematic reviewsAirway Management in a Pediatric Patient Presenting with Pierre-Robin Sequence.
Kansas journal of medicineReduced intensity versus myeloablative conditioning for MDS: long-term results of an EBMT phase III study (RICMAC).
Bone marrow transplantationImaging findings of children with PTEN-related hamartoma tumor syndrome: a 20-year multicentric pediatric cohort.
Pediatric radiologyLong-term mandibular growth in patients with airway obstruction treated with mandibular distraction.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryVentilator-associated pneumonia related to extended-spectrum beta-lactamase producing Enterobacterales during severe acute respiratory syndrome coronavirus 2 infection: risk factors and prognosis.
Critical care (London, England)Respiratory outcomes after cleft palate closure in Robin sequence: a retrospective study.
Clinical oral investigationsProspective cohort study on facial profile changes in infants with Robin sequence and healthy controls.
World journal of pediatrics : WJPTrue Incidence of Marginal Mandibular Nerve Palsy following Neonatal Mandibular Distraction Osteogenesis.
Plastic and reconstructive surgeryMyopathy related to chronic Graft-Versus-Host Disease: From clinic to histological & immunological characterization by imaging mass cytometry.
American journal of hematologyFeeding Management and Palate Repair Timing in Infants with Cleft Palate with and without Pierre Robin Sequence: A Multisite Study.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationERS/EBMT clinical practice guidelines on treatment of pulmonary chronic graft-versus-host disease in adults.
The European respiratory journalRisk factors for poor oocyte yield and oocyte immaturity after GnRH agonist triggering.
Human reproduction (Oxford, England)Minimally-invasive airway management and early cleft palate repair in infants born with Robin sequence.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgerySyndromic Piere Robbin Sequence- A Rare Presentation in Association with Multiple Heart Defects and Type III Stickler Syndrome.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaVentilatory capacity in CLAD is driven by dysfunctional airway structure.
EBioMedicineOcclusal Outcomes in Non-Robin Sequence Patients with Isolated Cleft Palate.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationOnline Resources for Robin Sequence; an Analysis of Readability.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationWeight Gain of Infants with Robin Sequence Treated Nonsurgically Using the Stanford Orthodontic Airway Plate (SOAP): 1-Year Follow-Up.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationGas exchange parameters for the prediction of obstructive sleep apnea in infants.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineIs it useful to measure DHEAS levels in PCOS?
Annales d'endocrinologieAllogeneic hematopoietic cell transplantation for VEXAS syndrome: results of a multicenter study of the EBMT.
Blood advancesManaging non-24-hour sleep-wake rhythm disorder with ramelteon in a 12-year-old girl with Pierre Robin sequence and developmental delay: a case report.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineApplication of the MicroNAPS Classification for Robin Sequence.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationA Rare Case of Grisel's Syndrome in A 6-Year-Old Child.
Journal of orthopaedic case reportsAnesthetic Management of a Cesarean Section for Preeclampsia in a Parturient With Stickler Syndrome: A Case Report.
CureusImmunomodulatory therapy in children with paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS, MIS-C; RECOVERY): a randomised, controlled, open-label, platform trial.
The Lancet. Child & adolescent healthImpact of post-transplant cyclophosphamide (PTCy)-based prophylaxis in matched sibling donor allogeneic haematopoietic cell transplantation for patients with myelodysplastic syndrome: a retrospective study on behalf of the Chronic Malignancies Working Party of the EBMT.
Bone marrow transplantationDiminished social motivation in early psychosis is associated with polygenic liability for low vitamin D.
Translational psychiatryImplementation of Mandibular Distraction Osteogenesis for Patients With Pierre Robin Sequence in a Developing Country Through International Collaboration: A Paradigm for Success.
The Journal of craniofacial surgeryEpidemiology of Robin sequence: geographical variation in the UK/Ireland.
Archives of disease in childhoodBone marrow graft versus peripheral blood graft in haploidentical hematopoietic stem cells transplantation: a retrospective analysis in1344 patients of SFGM-TC registry.
Journal of hematology & oncologyOccurrences of post-traumatic stress disorder, anxiety, depression, and burnout syndrome in ICU staff workers after two-year of the COVID-19 pandemic: the international PSY-CO in ICU study.
Annals of general psychiatryModified endotracheal tube for airway management in paediatric patients with Pierre Robin Sequence.
The British journal of oral & maxillofacial surgeryPredicting Failure of Conservative Airway Management in Infants with Robin Sequence: The EARN Factors.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationPrenatal Diagnosis of Fetal Micrognathia at 11-20 Weeks of Gestation: A Prospective Observation Study.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in MedicineManagement of an Anticipated Difficult Airway in a Pediatric Patient With Stickler Syndrome.
CureusThe Interplay between Helicobacter pylori and Gut Microbiota in Non-Gastrointestinal Disorders: A Special Focus on Atherosclerosis.
International journal of molecular sciencesFailure of Mandibular Distraction Osteogenesis in Klippel- Feil Syndrome- 4: A Case Report of a Rare Syndromic Robin Sequence.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome Pierre Robin-contraturas-perturbação do desenvolvimento.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome Pierre Robin-contraturas-perturbação do desenvolvimento
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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.
- Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
- Cervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.
- Charles Bonnet Syndrome: associations between psychosocial measures and visual hallucination characteristics in the visually impaired.
- Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.
- Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.
- Revision alloplastic temporomandibular joint reconstruction for re-advancement in syndromic ankylosis: a case report involving simultaneous Klippel-Feil syndrome and Pierre Robin sequence.
- Orthodontic Appliance-Related Mucosal Ulcerations in Newborns and Infants With Craniofacial Disorders.
- Navigating Airway Obstacles: Effective Anesthesia Strategies for Severe Robinson Sequence in a 3 year old.
- Benefit/risk balance of prone positioning as first line treatment for upper airway obstruction in Robin sequence.
- Characterizing Differences in Polysomnography Data for Children With Robin Sequence Undergoing Conservative and Surgical Management.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:436003(Orphanet)
- MONDO:0018571(MONDO)
- GARD:21816(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55788187(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
