Raras
Buscar doenças, sintomas, genes...
Síndrome Pierre Robin-contraturas-perturbação do desenvolvimento
Mantido por Agente Raras·Colaborar como especialista →

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

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
6
pacientes catalogados
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PE, CE, DF, SP +5CID-10: Q87.0
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

🦴
Ossos e articulações
7 sintomas
😀
Face
5 sintomas
👁️
Olhos
3 sintomas
❤️
Coração
2 sintomas
🧠
Neurológico
2 sintomas
🫁
Pulmão
1 sintomas

+ 13 sintomas em outras categorias

Características mais comuns

90%prev.
Atraso no desenvolvimento da fala e da linguagem
Muito frequente (99-80%)
90%prev.
Atraso motor
Muito frequente (99-80%)
55%prev.
Apneia obstrutiva do sono
Frequente (79-30%)
55%prev.
Hélice superdobrada
Frequente (79-30%)
55%prev.
Micrognatia
Frequente (79-30%)
55%prev.
Glossoptose
Frequente (79-30%)
36sintomas
Muito frequente (2)
Frequente (13)
Ocasional (21)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 36 características clínicas mais associadas, ordenadas por frequência.

Atraso no desenvolvimento da fala e da linguagemDelayed speech and language development
Muito frequente (99-80%)90%
Atraso motorMotor delay
Muito frequente (99-80%)90%
Apneia obstrutiva do sonoObstructive sleep apnea
Frequente (79-30%)55%
Hélice superdobradaOverfolded helix
Frequente (79-30%)55%
MicrognatiaMicrognathia
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2025103 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome 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

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.

International journal of molecular sciences2026 Feb 27

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.

#2

Cervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.

Surgical neurology international2026

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.

#3

Charles Bonnet Syndrome: associations between psychosocial measures and visual hallucination characteristics in the visually impaired.

BMJ open ophthalmology2026 Mar 02

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.

#4

Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.

European journal of human genetics : EJHG2026 Feb 13

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.

#5

Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Neurology2026 Feb 10

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

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

Gestational diabetes mellitus in women with polycystic ovary syndrome.

Diabetes &amp; metabolism
2026

The complexity of pain in inflammatory arthropathies beyond pain intensity and impact: An OMERACT initiative.

Seminars in arthritis and rheumatism
2026

A De Novo Variant in NALCN Associated With Arthrogryposis and Neonatal Respiratory Failure: A Case Report.

Pediatric pulmonology
2026

mPFC pyramidal neuron synchrony during social competition to form social rankings is disrupted in male Mecp2 knockout mice.

bioRxiv : the preprint server for biology
2026

Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.

International journal of molecular sciences
2026

Cervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.

Surgical neurology international
2026

Charles Bonnet Syndrome: associations between psychosocial measures and visual hallucination characteristics in the visually impaired.

BMJ open ophthalmology
2026

Retinal detachment in patients with Sticklers syndrome: A comprehensive analysis for craniofacial surgeons.

JPRAS open
2026

Morphometric Findings in Adolescents with Robin Sequence: A Photographic and Cephalometric Study of the Face and Mandible.

Children (Basel, Switzerland)
2026

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 surgery
2026

Permanent Catheter Placement for Recurrent Pericardial Effusions in the Presence of Dense Adhesions and Loculations.

Cureus
2026

Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.

European journal of human genetics : EJHG
2026

Characterizing Secondary Velopharyngeal Surgery in Children With Cleft Palate at an Academic Center.

The Laryngoscope
2026

A 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 &amp; function
2026

Metabolic syndrome and immune-related adverse events.

Cancer immunology, immunotherapy : CII
2026

Orthodontic Appliance-Related Mucosal Ulcerations in Newborns and Infants With Craniofacial Disorders.

Clinical and experimental dental research
2026

Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Neurology
2025

Associated congenital malformations, syndromes, and medical conditions in patients with orofacial clefts: a 10-year hospital-based study in Thailand.

Frontiers in oral health
2025

Navigating Airway Obstacles: Effective Anesthesia Strategies for Severe Robinson Sequence in a 3 year old.

The Medical journal of Malaysia
2025

Benefit/risk balance of prone positioning as first line treatment for upper airway obstruction in Robin sequence.

European journal of pediatrics
2025

Speech Results in 10-Year-Old Children With Isolated Cleft Palate.

The Journal of craniofacial surgery
2025

Changes 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&amp;E
2025

Catch-Up Growth in Syndromic Robin Sequence: A Systematic Review.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Management 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 Association
2025

PEEP-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 care
2025

Imaging of Congenital and Developmental Conditions of the Temporomandibular Joint.

Neuroimaging clinics of North America
2026

Lateral mandibular ridge: A unique feature of the auriculocondylar syndrome.

European journal of radiology
2025

Characterizing 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 Surgery
2025

Nutritional Needs and Growth Patterns in Patients With Robin Sequence Following Mandibular Distraction Osteogenesis.

Annals of plastic surgery
2025

Diagnostic Challenges in Antiphospholipid Antibody-Associated Chorea: A Case Report.

Case reports in neurological medicine
2026

Genetic Landscape of Robin Sequence: A Systematic Review.

Clinical genetics
2025

Pharyngeal Arches, Chapter 3: Craniofacial Syndromes.

The Journal of craniofacial surgery
2026

Transplantation in patients with lower-risk MDS: a prospective phase 2 trial based on donor availability.

Blood advances
2025

Clinical Outcomes of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Based on Hospital Admission Type.

Cutis
2026

Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.

Clinical genetics
2025

Prevalence 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 &amp; spine
2025

Feasibility 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)
2025

The B-lymphoblastoid model in Barth syndrome.

Biochimica et biophysica acta. Molecular and cell biology of lipids
2025

What Factors Affect Safe Bedside Extubation After Mandibular Distraction?

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Exploring stickler syndrome through a familial case: Beyond Robin sequence.

Pediatrics and neonatology
2025

Customized 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 J
2025

Allogeneic hematopoietic stem cell transplantation in patients with germ line DDX41 mutated myeloid malignancies.

Blood advances
2025

Cognitive 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 Association
2025

Conditioning 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 transplantation
2025

Ptip and the Trr-COMPASS-like Complex Regulate Cardiac Progenitor Cell Division in the Drosophila Embryonic Heart Tube.

International journal of molecular sciences
2025

Orthodontic Perspectives in the Interdisciplinary Management of Pediatric Obstructive Sleep Apnea.

Children (Basel, Switzerland)
2025

Application of four-section approach for prenatal diagnosis of Pierre robin sequence.

Journal of medical ultrasonics (2001)
2025

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 Association
2025

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
2025

Transcatheter Tricuspid Valve Replacement Beyond Boundaries.

JACC. Case reports
2025

Mapping 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 biology
2026

American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel.

Arthritis &amp; rheumatology (Hoboken, N.J.)
2025

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
2025

[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 genetics
2026

Long-Term Occlusal Outcomes for Conservative Management in Patients With Robin Sequence.

The Laryngoscope
2025

Adverse 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 Association
2025

Aravind Pseudoexfoliation Study (APEX): 10-Year Postoperative Results.

American journal of ophthalmology
2025

A Single Institution Comparison of Speech Outcomes Following Palatoplasty in Stickler Syndrome.

Annals of plastic surgery
2025

Safety 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 therapy
2025

Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy.

Human molecular genetics
2025

Special considerations for international weight standards for cleft surgery: presurgical optimisation in a patient with femoral-facial syndrome.

BMJ case reports
2025

Navigation-Guided Cochlear Implantation in Complex Congenital Ear Anomalies: Pierre Robin Syndrome With External Aural Atresia and Middle Ear Agenesis.

The Journal of craniofacial surgery
2025

The 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 therapy
2025

Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort.

Orphanet journal of rare diseases
2025

Chromosome 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 A
2025

Development of a Novel Diagnostic Modality for Upper Airway Obstruction in Neonates.

The Laryngoscope
2025

Toxicological concerns regarding glyphosate, its formulations, and co-formulants as environmental pollutants: a review of published studies from 2010 to 2025.

Archives of toxicology
2025

Speech Outcomes After Secondary Furlow Z-Plasty and Pharyngeal Flap Procedure.

The Journal of craniofacial surgery
2025

Use of the preepiglottic baton plate for treatment of tongue-based obstruction in newborns with Robin sequence.

Current opinion in otolaryngology &amp; head and neck surgery
2025

Semi-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 Surgery
2025

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.

medRxiv : the preprint server for health sciences
2025

Multidisciplinary approach to airway management in Pierre Robin sequence: beyond tracheostomy.

International journal of pediatric otorhinolaryngology
2025

A Challenge in Perioperative Anesthetic Management: A Case Report of an Infant With Concurrent Ullrich Congenital Muscular Dystrophy and Pierre Robin Sequence.

Cureus
2025

Childhood trauma associations with changes in body mass index over 12 months of treatment in first-episode schizophrenia spectrum disorders.

Schizophrenia research
2025

The challenge of assessing upper airway obstruction severity in infants with Robin Sequence.

Sleep medicine
2025

GnRH 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 Endocrinology
2025

Adjunctive use of cannabidiol in pediatric drug-resistant epilepsy: A retrospective multicenter analysis.

Epilepsy &amp; behavior : E&amp;B
2025

Patient 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 Surgery
2025

COG6-related prenatal phenotype (CDG2L): Clinico-pathological report and review of the literature.

Molecular genetics &amp; genomic medicine
2025

Characterizing Mandibular Morphology in Robin Sequence-A 3D Statistical Shape Analysis.

The Journal of craniofacial surgery
2025

Epidemiology and Incidence of Pierre Robin Sequence in the Maltese Islands: A Population-Based Study.

The Journal of craniofacial surgery
2025

Massive tubular ectasia of the rete testes in a patient with Marfan syndrome.

Urology case reports
2025

Risk Factors for Obstructive Sleep Apnea in Patients With Cleft Palate.

Annals of plastic surgery
2025

Systematic Review of Safety and Efficacy of Positional Therapy as First-line Management for Robin Sequence.

The Journal of craniofacial surgery
2025

A Randomized Crossover Trial to Evaluate the Effect of Positioning on Obstructive Sleep Apnea in Infants with Robin Sequence.

Children (Basel, Switzerland)
2025

Sleep-Disordered Breathing and Central Respiratory Control in Children: A Comprehensive Review.

Children (Basel, Switzerland)
2025

AAV9-cBIN1 gene therapy rescues chronic heart failure due to ischemic cardiomyopathy in a canine model.

Communications medicine
2025

Organization of Prenatal Care in Orofacial Clefts and Suspected Robin Sequence: A European Survey.

The Journal of craniofacial surgery
2025

Femoral-facial syndrome in a Black Bantu African preterm infant: a case report.

Journal of medical case reports
2025

Diagnosis and treatment of Diamond-Blackfan anemia and Pierre-Robin sequence caused by a novel mutation of RPS28 gene.

Hematology (Amsterdam, Netherlands)
2025

Towards Reaching Consensus in the Diagnosis and Management of Infants With Robin Sequence.

Acta paediatrica (Oslo, Norway : 1992)
2025

Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study.

Orphanet journal of rare diseases
2025

Cleft palate surgery and speech outcomes in children with Robin sequence.

Paediatric respiratory reviews
2025

Fetal 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 pediatrie
2025

A Comprehensive Approach to Robin Sequence.

Clinics in plastic surgery
2025

Clinical-genomic profiling of MDS to inform allo-HCT: recommendations from an international panel on behalf of the EBMT.

Blood
2025

Efficacy and outcomes of long-term non-invasive ventilation in children with Robin sequence.

Sleep &amp; breathing = Schlaf &amp; Atmung
2025

Robin Sequence: From Dilemmas to Developing an Adaptable Standardized Stepwise Approach.

Acta paediatrica (Oslo, Norway : 1992)
2026

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 Association
2025

The oral and maxillofacial manifestations of Stickler syndrome: A systematic review.

Journal of stomatology, oral and maxillofacial surgery
2025

Focused Investigation of Facial Nerve Dysfunction After Mandibular Distraction Osteogenesis for Robin Sequence.

The Journal of craniofacial surgery
2026

Mandibular 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 Association
2025

CBCT-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 surgery
2025

Diffusion tensor imaging with free-water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I.

Journal of inherited metabolic disease
2025

Neurodevelopmental impairment in children with Robin sequence: A systematic review and meta-analysis.

Early human development
2025

Simultaneous death of two siblings, a Senna matter?

Toxicon : official journal of the International Society on Toxinology
2024

Experience of General Anesthesia for Glossopexy in Infants With Robin Sequence.

Anesthesia progress
2026

Near-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 Association
2025

Ophthalmic Manifestations in a Diverse Pediatric Population with Type I and Type II Stickler Syndrome.

Ophthalmology. Retina
2025

TP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers.

Journal of the National Cancer Institute
2025

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism.

European journal of human genetics : EJHG
2025

Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies.

European journal of human genetics : EJHG
2025

Role of polysomnography in the management of obstructive sleep apnea during the first year of life in robin sequence: A prospective and longitudinal study.

Sleep medicine
2025

Micrognathia and cleft palate as a cause of obstructive sleep apnoea in infants.

Acta paediatrica (Oslo, Norway : 1992)
2024

Robin Sequence: Neonatal Management.

NeoReviews
2025

Debunking 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
2024

[CHARGE syndrome in a neonate].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2025

Comparative Effectiveness of Preepiglottic Baton Plates and Mandibular Distraction in Infants with Robin Sequence.

Plastic and reconstructive surgery
2026

Speech 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 Association
2024

Role of Nasopharyngeal Airway in Management of Craniofacial Syndrome-Associated Upper Airway Obstruction in Children.

Orthodontics &amp; craniofacial research
2025

Prevalence and clinical value of autoantibodies directed against lysobisphosphatidic acid in antiphospholipid syndrome.

Rheumatology (Oxford, England)
2024

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.

Gut
2024

Inotuzumab 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 Oncology
2025

Functional hypothalamic amenorrhoea and polycystic ovarian morphology: a narrative review about an intriguing association.

Human reproduction update
2025

Exploring cyclic vomiting syndrome (CVS) worldwide: Current epidemiological insights and recent developments.

Neurogastroenterology and motility
2025

Cost Analysis of Avoiding Gastrostomy Tube in Robin Sequence Neonates that Undergo Mandibular Distraction.

The Laryngoscope
2024

Diagnosis and Early Management of Robin Sequence.

Children (Basel, Switzerland)
2024

Ancient developmental genes underlie evolutionary novelties in walking fish.

Current biology : CB
2024

Benchmarking whole exome sequencing in the German network for personalized medicine.

European journal of cancer (Oxford, England : 1990)
2024

Velopharyngeal insufficiency after cleft palate repair in patients with isolated Robin sequence versus isolated cleft palate: A systematic review.

JPRAS open
2024

G-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 Surgery
2024

Non-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 Surgery
2024

Postoperative 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 Surgery
2024

Quality of Life Among Hospitalized Fibromyalgia Older Adults: a Case-Control Study.

Canadian geriatrics journal : CGJ
2024

Modified nasopharyngeal airway for pressure support ventilation in airway management of a case of Robin sequence with bilateral temporomandibular joint ankylosis.

BMJ case reports
2024

Does 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 Surgeons
2024

Airway Management May Not Improve in Adult Patients With Pierre Robin Sequence: A Case Report.

A&amp;A practice
2024

Current challenges in conditioning regimens for MDS transplantation.

Blood reviews
2024

ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome.

European journal of human genetics : EJHG
2025

Sensory-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 Association
2024

Airway management in infants with Robin sequence in the United Kingdom and Ireland: A prospective population-based study.

Pediatric pulmonology
2024

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 &amp; maxillofacial surgery
2024

Re: 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 &amp; maxillofacial surgery
2024

Whole phenotype of patients with systemic sclerosis and sicca manifestations: Comparison with sicca manifestations from other causes.

Seminars in arthritis and rheumatism
2024

Nonsurgical 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 Medicine
2024

Impact of intensive prone position therapy on outcomes in intubated patients with ARDS related to COVID-19.

Annals of intensive care
2024

A 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 health
2024

Mandibular distraction osteogenesis in children with Pierre Robin sequence: long-term analysis of teeth and jaw growth.

The British journal of oral &amp; maxillofacial surgery
2025

Presurgical 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 Association
2024

Brexucabtagene autoleucel for relapsed or refractory mantle cell lymphoma in the United Kingdom: A real-world intention-to-treat analysis.

HemaSphere
2024

Jaw Thrust: A Simple Predictor of Success in Mandibular Distraction Osteogenesis.

The Journal of craniofacial surgery
2024

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 &amp; maxillofacial surgery
2024

Evaluation of hard palate and cleft morphology in neonates with Pierre Robin Sequence and Cleft Palate Only.

Orthodontics &amp; craniofacial research
2024

Leptomeningeal carcinomatosis from breast cancer initially mimicking cerebral infarction on MRI.

Radiology case reports
2024

Pre-Epiglottic Baton Plate in Newborns With Pierre Robin Sequence: Revisiting the Practical Workflow.

The Laryngoscope
2024

Does IPSS-R downstaging before transplantation improve the prognosis of patients with myelodysplastic neoplasms?

Blood
2024

Mandibular Distraction in Patients With Pierre Robin Sequence: A Multisurgeon Experience.

Annals of plastic surgery
2024

Prognostic Risks for Tracheostomy in Pierre Robin Sequence: A Cohort From a Tertiary Hospital in Thailand.

Annals of plastic surgery
2024

Impact of upper airway obstruction management in Robin Sequence on need for myringotomy tubes.

International journal of pediatric otorhinolaryngology
2024

Pre-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 laryngology
2024

Antiviral medications for preventing cytomegalovirus disease in solid organ transplant recipients.

The Cochrane database of systematic reviews
2024

Airway Management in a Pediatric Patient Presenting with Pierre-Robin Sequence.

Kansas journal of medicine
2024

Reduced intensity versus myeloablative conditioning for MDS: long-term results of an EBMT phase III study (RICMAC).

Bone marrow transplantation
2024

Imaging findings of children with PTEN-related hamartoma tumor syndrome: a 20-year multicentric pediatric cohort.

Pediatric radiology
2024

Long-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 Surgery
2024

Ventilator-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)
2024

Respiratory outcomes after cleft palate closure in Robin sequence: a retrospective study.

Clinical oral investigations
2024

Prospective cohort study on facial profile changes in infants with Robin sequence and healthy controls.

World journal of pediatrics : WJP
2025

True Incidence of Marginal Mandibular Nerve Palsy following Neonatal Mandibular Distraction Osteogenesis.

Plastic and reconstructive surgery
2024

Myopathy related to chronic Graft-Versus-Host Disease: From clinic to histological & immunological characterization by imaging mass cytometry.

American journal of hematology
2025

Feeding 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 Association
2024

ERS/EBMT clinical practice guidelines on treatment of pulmonary chronic graft-versus-host disease in adults.

The European respiratory journal
2024

Risk factors for poor oocyte yield and oocyte immaturity after GnRH agonist triggering.

Human reproduction (Oxford, England)
2024

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 Surgery
2024

Syndromic 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 India
2024

Ventilatory capacity in CLAD is driven by dysfunctional airway structure.

EBioMedicine
2025

Occlusal Outcomes in Non-Robin Sequence Patients with Isolated Cleft Palate.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Online Resources for Robin Sequence; an Analysis of Readability.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Weight 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 Association
2024

Gas 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 Medicine
2024

Is it useful to measure DHEAS levels in PCOS?

Annales d'endocrinologie
2024

Allogeneic hematopoietic cell transplantation for VEXAS syndrome: results of a multicenter study of the EBMT.

Blood advances
2024

Managing 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 Medicine
2025

Application of the MicroNAPS Classification for Robin Sequence.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2024

A Rare Case of Grisel's Syndrome in A 6-Year-Old Child.

Journal of orthopaedic case reports
2023

Anesthetic Management of a Cesarean Section for Preeclampsia in a Parturient With Stickler Syndrome: A Case Report.

Cureus
2024

Immunomodulatory 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 &amp; adolescent health
2024

Impact 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 transplantation
2024

Diminished social motivation in early psychosis is associated with polygenic liability for low vitamin D.

Translational psychiatry
2024

Implementation 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 surgery
2024

Epidemiology of Robin sequence: geographical variation in the UK/Ireland.

Archives of disease in childhood
2024

Bone marrow graft versus peripheral blood graft in haploidentical hematopoietic stem cells transplantation: a retrospective analysis in1344 patients of SFGM-TC registry.

Journal of hematology &amp; oncology
2024

Occurrences 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 psychiatry
2024

Modified endotracheal tube for airway management in paediatric patients with Pierre Robin Sequence.

The British journal of oral &amp; maxillofacial surgery
2025

Predicting 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 Association
2024

Prenatal 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 Medicine
2023

Management of an Anticipated Difficult Airway in a Pediatric Patient With Stickler Syndrome.

Cureus
2023

The Interplay between Helicobacter pylori and Gut Microbiota in Non-Gastrointestinal Disorders: A Special Focus on Atherosclerosis.

International journal of molecular sciences
2025

Failure 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 Association

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

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

  1. Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
    International journal of molecular sciences· 2026· PMID 41828453mais citado
  2. Cervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.
    Surgical neurology international· 2026· PMID 41783179mais citado
  3. Charles Bonnet Syndrome: associations between psychosocial measures and visual hallucination characteristics in the visually impaired.
    BMJ open ophthalmology· 2026· PMID 41771640mais citado
  4. Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.
    European journal of human genetics : EJHG· 2026· PMID 41688774mais citado
  5. Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.
    Neurology· 2026· PMID 41538773mais citado
  6. Revision alloplastic temporomandibular joint reconstruction for re-advancement in syndromic ankylosis: a case report involving simultaneous Klippel-Feil syndrome and Pierre Robin sequence.
    Oral Maxillofac Surg· 2026· PMID 41699301recente
  7. Orthodontic Appliance-Related Mucosal Ulcerations in Newborns and Infants With Craniofacial Disorders.
    Clin Exp Dent Res· 2026· PMID 41560453recente
  8. Navigating Airway Obstacles: Effective Anesthesia Strategies for Severe Robinson Sequence in a 3 year old.
    Med J Malaysia· 2025· PMID 41456149recente
  9. Benefit/risk balance of prone positioning as first line treatment for upper airway obstruction in Robin sequence.
    Eur J Pediatr· 2025· PMID 41400683recente
  10. Characterizing Differences in Polysomnography Data for Children With Robin Sequence Undergoing Conservative and Surgical Management.
    Otolaryngol Head Neck Surg· 2025· PMID 41085083recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:436003(Orphanet)
  2. MONDO:0018571(MONDO)
  3. GARD:21816(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. 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

Síndrome Pierre Robin-contraturas-perturbação do desenvolvimento
Compêndio · Raras BR

Síndrome Pierre Robin-contraturas-perturbação do desenvolvimento

ORPHA:436003 · MONDO:0018571
Prevalência
<1 / 1 000 000
Casos
6 casos conhecidos
Herança
Unknown
CID-10
Q87.0 · Síndromes com malformações congênitas afetando predominantemente o aspecto da face
Início
Antenatal, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C5680042
Wikidata
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