Essa síndrome se caracteriza pela presença da sequência de Pierre Robin (com queixo para trás, céu da boca rachado e língua caída para trás), características faciais diferentes (testa alta e proeminente) e alterações nos dedos (dedos afilados, unhas muito curvadas, dedo mínimo torto, últimos ossinhos dos dedos curtos, polegares que parecem dedos comuns e articulações na base do polegar que saem do lugar com facilidade). O crescimento e o desenvolvimento mental eram normais.
Introdução
O que você precisa saber de cara
Essa síndrome se caracteriza pela presença da sequência de Pierre Robin (com queixo para trás, céu da boca rachado e língua caída para trás), características faciais diferentes (testa alta e proeminente) e alterações nos dedos (dedos afilados, unhas muito curvadas, dedo mínimo torto, últimos ossinhos dos dedos curtos, polegares que parecem dedos comuns e articulações na base do polegar que saem do lugar com facilidade). O crescimento e o desenvolvimento mental eram normais.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 3 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 12 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de anomalia facio-digital-síndrome Pierre-Robin
Centros de Referência SUS
24 centros habilitados pelo SUS para Síndrome de anomalia facio-digital-síndrome Pierre-Robin
Centros para Síndrome de anomalia facio-digital-síndrome Pierre-Robin
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
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 UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
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 Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
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 São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
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 Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
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 Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
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
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 7.533
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.
Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.
Stickler syndrome (SS) is clinically and genetically heterogeneous. Autosomal recessive Stickler syndrome (ARSS) is characterized by sensorineural hearing loss, myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. It may also include midfacial hypoplasia, cleft palate, and skeletal manifestations. Currently, only 40 ARSS cases have been described, and just 4 are linked to pathogenic variants in the LOXL3 gene. A 20-year-old woman was referred to Medical Genetics due to Pierre Robin sequence, myopia, hearing loss, and distinct features. She was evaluated in early childhood with her sisters but was discharged without a specific genetic diagnosis. Polyhydramnios was detected in prenatal ultrasounds. Delivery occurred at 35 weeks. At birth, Pierre Robin sequence was evident, and she was admitted due to apnea. Complementary tests included karyotype, FISH 22q11, and screening for associated anomalies (cardiology, ophthalmology, ABR, and abdominal and cranial ultrasounds), all of which were normal. She had delayed speech development. She presents high myopia and bilateral conductive hearing loss, as well as nonspecific joint pain. She has two sisters with overlapping phenotypes. Both had cleft palate repair (one also with Pierre Robin sequence) and high-degree myopia. The first had a ventricular septal defect that spontaneously closed at age 5, and the second has conductive hearing loss. The physical examination highlights: microcephaly (head circumference < p1, -2.5 SD), downward-slanting palpebral fissures, midfacial and nasal ala hypoplasia, flat nasal bridge, elongated and flat philtrum, high-arched palate, absent uvula, joint hypermobility, shortening of third-fifth metacarpals and metatarsals, wide feet, and bilateral hallux valgus. Targeted sequencing of SS-associated genes revealed a likely pathogenic variant c.1735C>T and a variant of uncertain significance c.956G>A in the LOXL3 gene. Affected sisters carry both variants; both parents are healthy carriers. We report three new cases of SS due to previously undescribed biallelic variants in the LOXL3 gene. The clinical features are similar to those observed in other SS patients; however, digital anomalies and microcephaly have not been previously reported in patients with LOXL3 variants, thus expanding the phenotypic spectrum. This case highlights the importance of re-evaluating patients in light of ongoing advances in genetic diagnostics.
Retinal detachment in patients with Sticklers syndrome: A comprehensive analysis for craniofacial surgeons.
Stickler syndrome (SS) is the leading cause of hereditary retinal detachment (RD) in children and is characterized by ophthalmic, auditory, orofacial, and articular abnormalities. Vision loss often results from retinal events (RE), including retinal tears and detachments. To identify clinical and genetic risk factors for retinal events in patients with SS, to guide screening and preventive care. This retrospective cohort study included 78 patients with clinically or genetically confirmed SS seen at the University Medical Center Utrecht between 2000 and 2019. Predictors included family history of SS, presence of a COL2A1 pathogenic variant, and degree of myopia. The primary outcome was occurrence of a retinal event, defined as a retinal tear or detachment confirmed by an ophthalmologist. Covariates were age, sex, Pierre Robin sequence, refractive error, retinopathy, hearing problems, joint problems, and cleft palate. Descriptive statistics, univariate analyses, and multivariate Kaplan-Meier survival models with multiple imputation and Firth's correction were used. Nineteen of 78 patients (24%) developed at least one retinal event at a median age of 14 years. Multivariate analysis revealed that a positive family history of SS (HR 5.53, 95% CI 1.42-21.55), COL2A1 pathogenic variant (HR 3.59, 95% CI 1.00-12.82), and greater myopic refractive error (HR 0.86, 95% CI 0.74-0.99) were significantly associated with increased RE risk. A positive family history, COL2A1 mutation, and higher myopia independently predict retinal events in Stickler syndrome. Regular ophthalmologic screening is recommended for younger and high-risk patients, while education on early symptoms of retinal detachment is essential for older children and adults.
Revision alloplastic temporomandibular joint reconstruction for re-advancement in syndromic ankylosis: a case report involving simultaneous Klippel-Feil syndrome and Pierre Robin sequence.
Temporomandibular joint (TMJ) ankylosis impairs jaw function, limiting mouth opening, speech, and mastication, and rendering airway access high-risk. In patients with syndromic conditions such as Pierre Robin Sequence (PRS) and Klippel-Feil Syndrome (KFS), ankylosis presents additional challenges due to airway compromise, restricted mandibular growth, and complex skeletal abnormalities. In addition, predicting the ability to advance the mandible using a prosthesis may be challenging due to anatomic factors. We report the case of an 18-year-old female with TMJ ankylosis, PRS, and KFS, presenting with severe trismus, retrognathia, and failed prior distraction osteogenesis. Imaging confirmed bilateral bony TMJ ankylosis and high-risk airway anatomy due to cervical spine fusion to the skull base. The patient underwent a staged surgical reconstruction involving ankylosis release and delayed alloplastic joint replacement with mandibular advancement. A later revision using new patient-fitted condylar components retained the fossa components and advanced the mandible an additional amount. The prosthetic outcome for mandibular advancement remains excellent six years after final reconstruction. There is no evidence of wound dehiscence, prosthesis loosening, or failure, and overall function remains significantly improved. This case highlights the complexities of TMJ ankylosis in a patient with multiple craniofacial syndromes and demonstrates the importance of individualized, multidisciplinary planning and the utility of prosthetic TMJ reconstruction. Revision using a new condylar component to further advance the mandible is a potential means of treatment while maintaining the fossa component to minimize variables at the time of surgery.
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📚 EuropePMCmostrando 199
Prenatal 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 internationalRetinal detachment in patients with Sticklers syndrome: A comprehensive analysis for craniofacial surgeons.
JPRAS openRevision 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 surgeryOrthodontic Appliance-Related Mucosal Ulcerations in Newborns and Infants With Craniofacial Disorders.
Clinical and experimental dental researchAssociated 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 MalaysiaImaging 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 radiologyThree New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.
Clinical geneticsFeasibility 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)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 JCognitive 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 AssociationOrthodontic Perspectives in the Interdisciplinary Management of Pediatric Obstructive Sleep Apnea.
Children (Basel, Switzerland)The Cumulative Burden of Comorbidities on Complications Following Mandibular Distraction Osteogenesis in Robin Sequence.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association[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 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 surgeryOral 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 AA Challenge in Perioperative Anesthetic Management: A Case Report of an Infant With Concurrent Ullrich Congenital Muscular Dystrophy and Pierre Robin Sequence.
CureusCOG6-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 surgeryOrganization 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)Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study.
Orphanet journal of rare diseasesMoving beyond surgical excellence: a qualitative systematic review into the perspectives and experiences of children, adolescents, and adults living with a rare congenital craniofacial condition and their parents.
Journal of plastic surgery and hand surgeryFetal 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 pediatrieRobin 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 AssociationDiagnosis and management of superficial arteriovenous malformations: French healthcare network's recommendations.
Orphanet journal of rare diseasesThe oral and maxillofacial manifestations of Stickler syndrome: A systematic review.
Journal of stomatology, oral and maxillofacial surgeryMissense variants weakening a SOX9 phosphodegron linked to odontogenesis defects, scoliosis, and other skeletal features.
HGG advancesNeurodevelopmental impairment in children with Robin sequence: A systematic review and meta-analysis.
Early human developmentBi-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 : EJHGRobin Sequence: Neonatal Management.
NeoReviewsPostoperative respiratory difficulties following primary cleft palate repair in infants with Robin sequence versus isolated cleft palate: A retrospective study.
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Children (Basel, Switzerland)Lingual Abscess in an Adult Patient With Pierre Robin Sequence: A Case Report.
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The British journal of oral & maxillofacial surgeryJaw Thrust: A Simple Predictor of Success in Mandibular Distraction Osteogenesis.
The Journal of craniofacial surgeryEvaluation of hard palate and cleft morphology in neonates with Pierre Robin Sequence and Cleft Palate Only.
Orthodontics & craniofacial researchPrognostic Risks for Tracheostomy in Pierre Robin Sequence: A Cohort From a Tertiary Hospital in Thailand.
Annals of plastic surgeryLong-term mandibular growth in patients with airway obstruction treated with mandibular distraction.
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Clinical oral investigationsSyndromic 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 IndiaAnesthetic Management of a Cesarean Section for Preeclampsia in a Parturient With Stickler Syndrome: A Case Report.
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CureusFailure 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 AssociationClinical Characteristics of the Cleft Lip and/or Palate: Association with Congenital Anomalies, Syndromes, and Chromosomal Anomalies.
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The Kobe journal of medical sciencesRobin Sequence Facial Profile After Conservative Treatment: A Long-Term Follow-Up.
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The LaryngoscopeEuropean Guideline Robin Sequence An Initiative From the European Reference Network for Rare Craniofacial Anomalies and Ear, Nose and Throat Disorders (ERN-CRANIO).
The Journal of craniofacial surgeryTracheostomy, the Not So Definitive Airway?: Tracheostomy Morbidity in Pediatric Craniofacial Patients.
The Journal of craniofacial surgeryIncidence, Characteristics, and Outcomes of Robin Sequence: A Population-Based Analysis in the United States.
The Journal of craniofacial surgeryAssociated anomalies in Pierre Robin sequence.
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The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationScreening for Obstructive Sleep Apnea and Associated Risk Factors in Adolescents and Adults With Isolated Robin Sequence.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationModified mandible traction with wires to treat neonatal Pierre Robin sequence: A case report.
Frontiers in surgeryTri-lobed Tongue: Rare Manifestation Accompany With Pierre Robin Sequence.
The Journal of craniofacial surgeryLacrimal drainage anomalies in Pierre Robin sequence.
Orbit (Amsterdam, Netherlands)Gene mutations and chromosomal abnormalities in syndromes with tooth agenesis.
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European journal of medical geneticsPierre Robin Sequence and 3D Printed Personalized Composite Appliances in Interdisciplinary Approach.
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Paediatric respiratory reviewsMandibular morphology and distraction osteogenesis vectors in patients with Robin sequence.
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Pediatric researchOral health-related quality of life in patients with cleft lip and/or palate or Robin sequence.
Journal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur KieferorthopadieImpaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome.
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Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in MedicineThe Influence of Genetic Syndromes on the Algorithm of Cleft Lip and Palate Repair - A Retrospective Study.
Annals of maxillofacial surgerySATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.
Orphanet journal of rare diseasesEarly weight gain in infants with Robin sequence after mandibular distraction.
International journal of oral and maxillofacial surgeryCraniofacial Orthodontic Experience in CODA-Accredited Orthodontic Residency Programs.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationPre-Epiglottic Baton Plate in the Management of Upper Airway Obstruction in an Infant with Femoral Facial Syndrome: A Case Report.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationComparison of direct laryngoscopy and video-assisted laryngoscopy in pediatric intensive care unit.
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American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of OrthodonticsEpidemiology of Rare Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage Study.
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HeliyonCytogenomic characterization of a de novo 4q34.1 deletion in a girl with mild dysmorphic features and a coagulation disorder.
Molecular cytogeneticsCleft palate lateral synechia syndrome in two patients and literature review.
International journal of oral and maxillofacial surgeryDetecting Hearing Loss in Infants With a Syndrome or Craniofacial Abnormalities Following the Newborn Hearing Screen.
Journal of speech, language, and hearing research : JSLHRAssociation between habitual snoring, middle ear disease, and speech problems in young children with non-syndromic cleft palate anomalies.
International journal of oral and maxillofacial surgeryUnusual phenotypes in patients with a pathogenic germline variant in DICER1.
Familial cancerPudendal nerve block for circumcision of pediatric patient with Pierre Robin Sequence: case report.
Brazilian journal of anesthesiology (Elsevier)Mandibular Distraction Osteogenesis for Tongue-Based Airway Obstruction Without Micrognathia.
Annals of plastic surgeryEpidemiology of Pierre-Robin sequence in Europe: A population-based EUROCAT study.
Paediatric and perinatal epidemiologyPredictors of Respiratory Dysfunction at Diagnosis of Robin Sequence.
The LaryngoscopeTongue-filled pharynx sign: new simple ultrasound clue to assess glossoptosis in Pierre Robin sequence.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyRobin Sequence: Neonatal Mandibular Distraction.
Clinics in plastic surgeryHow Does Hypodontia Compare in Nonsyndromic Pierre Robin Sequence Versus Isolated Cleft Palate and Isolated Cleft Lip?
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationObjective measurements for upper airway obstruction in infants with Robin sequence: what are we measuring? A systematic review.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineHeterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
American journal of human geneticsCleft Lip and Palate in Infants With Prenatal Opioid Exposure.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationMandibular Distraction Osteogenesis as a Primary Intervention in Infants With Pierre Robin Sequence.
Annals of plastic surgeryClinical characterization of 266 patients and family members with cleft lip and/or palate with associated malformations and syndromes.
Clinical oral investigationsVideolaryngoscopy Bails us out of Difficult Intubation Scenarios in Syndromic Children: A Case Series.
Turkish journal of anaesthesiology and reanimationPierre Robin sequence with tetralogy of Fallot: An unusual finding.
International journal of health sciencesTooth Development Following Mandibular Distraction Osteogenesis in Neonates With Pierre Robin Sequence.
The Journal of craniofacial surgeryCraniofacial Features in Richieri-Costa-Pereira Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association[Dental complications of the mandibular distraction osteogenesis].
StomatologiiaClinical and Demographical Characteristics of Cleft Lip and/or Palate in the Northwest of Iran: An Analysis of 1500 Patients.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationPhenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.
Clinical geneticsRigid Video Laryngoscopy for Intubation in Severe Pierre Robin Sequence: A Retrospective Review.
The LaryngoscopePhenotypes, Developmental Basis, and Genetics of Pierre Robin Complex.
Journal of developmental biologyMandibular distraction osteogenesis for Pierre Robin sequence: The Sydney experience.
Journal of plastic, reconstructive & aesthetic surgery : JPRASA novel 1p33p32.2 deletion involving SCP2, ORC1, and DAB1 genes in a patient with craniofacial dysplasia, short stature, developmental delay, and leukoencephalopathy: A case report.
MedicineMed23 Regulates Sox9 Expression during Craniofacial Development.
Journal of dental researchA Comparison of Outcomes After Palatoplasty in Patients With Non-Syndromic Pierre Robin Sequence Versus Patients With Non-Syndromic Isolated Cleft Palate.
The Journal of craniofacial surgeryEndotracheal intubation using a three-dimensional printed airway model in a patient with Pierre Robin sequence and a history of tracheostomy -a case report.
Korean journal of anesthesiologyCranial Neural Crest Cells and Their Role in the Pathogenesis of Craniofacial Anomalies and Coronal Craniosynostosis.
Journal of developmental biologyFurther Clinical Delineation of Chromosome 1q21Microduplication Syndrome: Robin Sequence as an Under-Recognized Association in Chromosomal Microdeletions and Duplications.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationPlacement of a Supraglottic Airway to Overcome Airway Obstruction When Performing Nasal Fiberoptic Intubation in Infants With Pierre Robin Sequence: A Case Series.
A&A practiceA novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features.
Clinical geneticsPierre Robin Sequence: Diagnostic Difficulties Faced while Differentiating Isolated and Syndromic Forms.
Acta medica (Hradec Kralove)CHEDDA syndrome: a case report and review of the literature for this newly described entity.
Radiology case reportsComparison Between Treacher Collins Syndrome and Pierre Robin Sequence: A Cephalometric Study.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationMandibular Distraction in Robin Sequence With Multi-Level Airway Disease: Always Contraindicated?
The Journal of craniofacial surgeryMandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.
Human mutationVariable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
American journal of medical genetics. Part ATotal facial nerve injury during mandibular distraction osteogenesis.
International journal of pediatric otorhinolaryngologyTechnical note on introducing a digital workflow for newborns with craniofacial anomalies based on intraoral scans - part II: 3D printed Tübingen palatal plate prototype for newborns with Robin sequence.
BMC oral healthReport of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat.
Molecular cytogeneticsFurther delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Genetics in medicine : official journal of the American College of Medical GeneticsClinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery[Etiological diagnosis and clinical evaluation of isolated fetal ascites].
Zhonghua fu chan ke za zhiCarey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis.
Journal of neuromuscular diseasesWeight gain in infants with Pierre Robin sequence.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryHyoid Bone Position and Head Posture in Patients With Richieri-Costa Pereira Syndrome (EIF4A3 Mutations).
The Journal of craniofacial surgeryMacrodontia Associated with Mandibular Distraction Osteogenesis.
Journal of dentistry for children (Chicago, Ill.)Pierre Robin sequence with severe scoliosis in an adult: A case report of clinical and radiological features.
Imaging science in dentistryPierre Robin Sequence in a Child With Ectopic Kidney, Polysyndactyly, And Short Stature: A Case Report.
CureusCatel-Manzke syndrome without Manzke dysostosis.
American journal of medical genetics. Part ATGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy.
American journal of medical genetics. Part AA clinical prediction rule to identify difficult intubation in children with Robin sequence requiring mandibular distraction osteogenesis based on craniofacial CT measures.
BMC anesthesiologyA retrospective study of patients with Robin sequence: Patient characteristics and their impact on clinical outcomes.
International journal of pediatric otorhinolaryngologyThe Comparison of Pierre Robin Sequence and Non-Syndromic Cleft Palate.
The Journal of craniofacial surgeryA comparison of airway interventions and gastrostomy tube placement in infants with Robin sequence.
International journal of oral and maxillofacial surgeryPrenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies.
American journal of medical genetics. Part AThe use of three-dimensional reconstructions of CT scans to evaluate anomalies of hyoid bone in Pierre Robin sequence: A retrospective study.
Journal of stomatology, oral and maxillofacial surgeryMid-Term Outcome of Mandibular Distraction Osteogenesis in Pierre Robin Sequence.
The Journal of craniofacial surgeryCervical Stenosis in Non-Syndromic Pierre Robin Sequence.
The Journal of craniofacial surgeryMethadone, Pierre Robin sequence and other congenital anomalies: case-control study.
Archives of disease in childhood. Fetal and neonatal editionExpanding the phenotypic spectrum associated with DPF2: A new case report.
American journal of medical genetics. Part AClinical attitude to the patient with Non-syndromic Pierre Robin Sequence with the cleft of soft palate and uvula - The necessity of fibroscopic investigation.
Neuro endocrinology lettersRisk Factors for Perioperative Respiratory Failure following Mandibular Distraction Osteogenesis for Micrognathia: A Retrospective Cohort Study.
Plastic and reconstructive surgeryThe Smith-Lemli-Opitz syndrome and dentofacial anomalies diagnostic: Case reports and literature review.
International orthodonticsWhich Factors Affect Length of Stay and Readmission Rate in Mandibular Distraction Osteogenesis?
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsCT Imaging Categorization and Biomarker Study of Anomalous Tympanic Segment of the Facial Nerves in Patients With Hearing Loss in the Absence of Microtia.
Ear, nose, & throat journalKyphomelic dysplasia, Pierre Robin Sequence and pregnant.
International journal of obstetric anesthesiaAssessment of Health-Related Quality of Life in Robin Sequence: A Comparison of Mandibular Distraction Osteogenesis and Tongue-Lip Adhesion.
Plastic and reconstructive surgeryInfant Midnasal Stenosis: Reliability of Nasal Metrics.
AJNR. American journal of neuroradiologySeverity of Retrognathia and Glossoptosis Does Not Predict Respiratory and Feeding Disorders in Pierre Robin Sequence.
Frontiers in pediatricsA Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity.
Frontiers in geneticsImaging Findings in Syndromes with Temporal Bone Abnormalities.
Neuroimaging clinics of North AmericaUnmasking familial CPX by WES and identification of novel clinical signs.
American journal of medical genetics. Part AIs Amniotic Fluid Level a Predictor for Syndromic Diagnosis in Robin Sequence?
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationInfant male with TARP syndrome: Review of clinical features, prognosis, and commonalities with previously reported patients.
American journal of medical genetics. Part APeripartum Management of Neonatal Pierre Robin Sequence.
Clinics in perinatologyNovel dental phenotype in non-syndromic Pierre Robin Sequence: A retrospective study.
Archives of oral biologySleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders.
Annals of translational medicineContribution of three-dimensional ultrasound and three-dimensional helical computed tomography to prenatal diagnosis of Stickler syndrome.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyTARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations.
European journal of medical geneticsRelease of syngnathia by anticlockwise rotation and mandibular advancement using bilateral alloplastic temporomandibular joint prostheses: a new approach.
The British journal of oral & maxillofacial surgeryFemoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair.
American journal of medical genetics. Part ACephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome.
The Journal of craniofacial surgeryEpidemiology of Robin sequence with cleft palate in the East of Scotland between 2004 and 2013.
Pediatric pulmonologyCombined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van der Woude Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationPierre Robin syndrome with caudal regression syndrome-a rare combination of congenital syndromes.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPredictors of Failure in Infant Mandibular Distraction Osteogenesis.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons[Association of macular coloboma and Pierre Robin sequence; could it be Stickler syndrome?].
Journal francais d'ophtalmologiePredicting Adverse Perioperative Events in Patients Undergoing Primary Cleft Palate Repair.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationMortality in Robin sequence: identification of risk factors.
European journal of pediatricsDiagnosing Tongue Base Obstruction in Pierre Robin Sequence Infants: Sleep vs Awake Endoscopy.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationAssociações
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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.
- Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.
- Retinal detachment in patients with Sticklers syndrome: A comprehensive analysis for craniofacial surgeons.
- Revision alloplastic temporomandibular joint reconstruction for re-advancement in syndromic ankylosis: a case report involving simultaneous Klippel-Feil syndrome and Pierre Robin sequence.
- Abduction-Release Sign in Heavy Eye Syndrome.
- Anti-GQ1b-Positive Miller Fisher Syndrome Following Pfizer Bivalent COVID-19 Vaccination.
- A review of chronic enterocolitis of rhesus macaques (Macaca mulatta) and potential as a naturally occurring model for post-infectious irritable bowel syndrome.
- Ophthalmic manifestations and management of Traboulsi syndrome in three children of a Saudi family.
- Potential mechanisms of the glucocorticoid withdrawal syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2888(Orphanet)
- OMIM OMIM:311895(OMIM)
- MONDO:0010710(MONDO)
- GARD:1274(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55782602(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
