Introdução
O que você precisa saber de cara
Monocelha é uma única sobrancelha criada quando as duas sobrancelhas se encontram no meio, acima da ponte do nariz. Os pelos acima da ponte do nariz são da mesma cor e espessura das sobrancelhas, de modo que convergem para formar uma linha ininterrupta de pelos.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 15 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 45 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: X-linked recessive.
Nucleus
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
An X-linked recessive disorder with onset in early childhood, characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis. Variable clinical features include anemia, and mild early motor or speech delay.
Variantes genéticas (ClinVar)
195 variantes patogênicas registradas no ClinVar.
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 hipoplasia da face média-comprometimento auditivo-eliptocitose-nefrocalcinose
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Craniofacial Dysmorphology Associated With Phelan-McDermid Syndrome Using Three-Dimensional Morphometrics.
Phelan-McDermid syndrome (PMS) frequently presents with distinctive facial features, although a typical facial phenotype for this condition has not been well characterized. Facial dysmorphology assessments can be subjective, depending on the experience and training of the clinical geneticist conducting the patient evaluation. In this investigation, we sought to quantitatively assess craniofacial features in Phelan-McDermid syndrome. Three-dimension (3D) morphometric assessment was conducted of 100 children and young adults diagnosed with PMS and 536 age- and sex-matched typically developing subjects obtained from the FaceBase consortium. The data were analyzed using principal component analysis (PCA), Procrustes MANOVA, and canonical variates analysis (CVA). We found that people with PMS aged 3-32 years have quantitatively distinctive craniofacial features compared to age- and sex-matched normed people. We observed an elongated face, a pointed chin, a flattened midface, and nasal expansion as characteristic of the PMS facial phenotype. Further, distinct growth patterns were observed, with children ages 3-6 and 7-12 years having more rapid growth compared to matched normed samples. While people with PMS have distinctive facial features, individual variation is the greatest contribution to facial variation. Quantitative assessment of craniofacial features paired with genotype can further our understanding of genetic contributions to craniofacial development.
Effect of Sagittal Maxillary Rotation on Inferior Scleral Exposure in Class III Maxillary Deficiency.
Inferior scleral exposure (ISE) is an important determinant of periorbital esthetics and overall facial harmony. While effects of linear maxillary movements are documented, influence of sagittal-plane maxillary rotational vectors on ISE remains insufficiently investigated. The purpose of this study was to measure the association between sagittal-plane maxillary rotational changes and ISE in subjects undergoing LeFort I osteotomy. This retrospective cohort study was conducted at Medipol Mega University Hospital (Istanbul, Türkiye) and included subjects treated with LeFort I osteotomy for Class III maxillary deficiency between 2019 and 2022. Subjects were excluded if anterior vertical maxillary repositioning exceeded ±2.5 mm (impaction or inferior maxillary repositioning) or if they had craniofacial syndromes, prior midface surgery, or inadequate preoperative or postoperative photographic records. Primary predictor was sagittal occlusal plane rotational change, measured in degrees (positive values indicating clockwise [CW] and negative values indicating counterclockwise [CCW] rotation). Primary outcome was the change in ISE between preoperative and postoperative assessments, evaluated using vertical distance from the pupil center to the lower eyelid margin and by pixel-based measurement of visible scleral area. Covariates included age and sex, sagittal maxillary advancement, and vertical maxillary repositioning. Preoperative and postoperative differences in ISE were assessed using paired t-tests. Between-group comparisons were performed using independent samples t-tests. Correlation analysis evaluated associations between sagittal rotation and changes in ISE. Statistical significance was set at P < .05. The study included 42 subjects of whom 15 (35.7%) were male (mean age, 25 ± 7 years). Mean sagittal occlusal plane rotation was -2.2 ± 1.8° in CCW group and 3.2 ± 2.5° in CW group. ISE statistically significantly decreased postoperatively in CW group (P = .005-.041), whereas no statistically significant change was observed in CCW group. Sagittal rotational magnitude was not correlated with scleral change (r = -0.12 to -0.15; P = .5-.9). Vertical maxillary repositioning remained significantly associated with scleral reduction (P = .02), while sagittal rotation was not an independent predictor. Although CW maxillary rotation was associated with reduced ISE in univariate analysis, vertical repositioning was a significant independent predictor. These findings emphasize importance of considering multiple vector components during virtual orthognathic surgical planning.
Case Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections.
Heterozygous variants in the ZEB2 gene are known to cause Mowat-Wilson syndrome (MWS). The classical clinical spectrum of MWS includes characteristic facial features, intellectual disability, epilepsy, Hirschsprung disease (HSCR), and various congenital malformations. Reported pathogenic variants have predominantly been truncating variants or missense variants involving the C-terminal zinc-finger domain. To date, no disease-causing missense variant affecting the N-terminal zinc-finger domain has been documented. We report a 3-year-old boy presenting with characteristic facial features, global developmental delay, and recurrent respiratory tract infections. Trio-based exome sequencing identified a de novo heterozygous missense variant in ZEB2, c.652C>T (p. Arg218Trp), located within the N-terminal zinc-finger domain. The patient exhibited a phenotype distinct from classical MWS, characterized by atypical facial dysmorphisms (including an elongated face, midface hypoplasia/depression, frontal bossing, esotropia, and hypertelorism), global developmental delay, and recurrent respiratory infections. Following comprehensive rehabilitation therapy (motor, cognitive, and language training) combined with oral zinc supplementation (elemental zinc 5 mg/day, approximately 0.3 mg/kg), the patient showed a marked reduction in respiratory infections and normalization of immune parameters after 12 months of treatment. This report describes a patient with a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 who presented with neurodevelopmental delay, atypical facial features, and recurrent respiratory infections, alongside a reduction in infection frequency during zinc supplementation. The variant is classified as likely pathogenic, and these observations expand the phenotypic variability potentially associated with ZEB2 variants. Additional cases and functional studies are required to confirm any causal link between the variant, the observed phenotype, and the effects of zinc supplementation.
Exploring the role of TWIST1 in malocclusion and craniofacial morphology.
Despite increasing evidence that common genetic variation contributes to variation in jaw and cranial base morphology, the biological mechanisms underlying malocclusion remain poorly defined. This study tested the hypothesis that a noncoding variant near TWIST1 alters craniofacial development by disrupting transcriptional regulation, contributing to skeletal phenotypes associated with malocclusion. In a cohort of 277 non-syndromic individuals with malocclusion, we performed targeted genotyping and deep sequencing of the TWIST1 locus, followed by multivariate genotype-phenotype correlation analyses. To evaluate regulatory function, we performed luciferase reporter assays and chromatin immunoprecipitation in multiple cell lines. Craniofacial consequences of Twist1 loss of function were characterized using 3D morphometrics and craniometric analysis in conditional knockout mice at postnatal days 14 and 21. The SNP rs2189000, located 4.2 kb upstream of TWIST1, showed a significant association with mandibular and anterior cranial base shape (P = 0.0003). No coding mutations were detected. Functional assays revealed that rs2189000 disrupts a conserved PITX2 binding site, abolishing PITX2-mediated activation of TWIST1 transcription. In mice, mesoderm-specific deletion of Twist1 produced craniofacial changes, such as domed skulls, mandibular shortening, palatal rotation, and facial asymmetry, that paralleled the human phenotypic associations. Additionally, premature closure of the cranial base synchondroses was observed, indicating a mechanistic link to disrupted postnatal growth trajectories. This study identifies a putative functional noncoding variant that dysregulates TWIST1 via disruption of PITX2 DNA binding and links this effect to postnatal craniofacial phenotypes in both humans and mice. These findings expand the developmental and genetic framework for understanding malocclusion and suggest a broader role for TWIST1 in cranial base growth and midface patterning.
Loss of SPECC1L in cranial neural crest cells results in increased hedgehog signaling and frontonasal dysplasia.
SPECC1L encodes a cytoskeletal scaffolding protein that interacts with filamentous actin, microtubules, and cell junctional components. In humans, autosomal dominant mutations in SPECC1L cause a syndrome characterized by craniofrontonasal anomalies including broad nasal bridge, ocular hypertelorism, prominent forehead, and cleft lip/palate. Complete loss of SPECC1L in mice on a homogeneous genetic background results in perinatal lethality, accompanied by subtle cranial differences and incompletely penetrant cleft palate. This lethality limits postnatal analysis of craniofacial development. Because cranial neural crest cells (CNCCs) contribute extensively to the formation of anterior craniofacial structures, we investigated whether disruption of SPECC1L in CNCCs contributes to the craniofrontonasal phenotypes observed in SPECC1L-related syndrome. We generated a Specc1l-floxed allele and crossed it with the Wnt1-Cre2 deleter strain, which drives Cre recombinase expression in the dorsal neuroectoderm and NCCs. Most homozygous Specc1l ΔCNCC mutants survived postnatally and exhibited hallmark features of the human SPECC1L-related syndrome, including shortened skulls, reduced frontal bone area, nasal defects, and midface hypoplasia. The cranial mesenchyme of Specc1l ΔCNCC mice displayed shortened primary cilia and increased Hedgehog (Hh) signaling activity at E13.5, as evidenced by enhanced GLI1 immunostaining. These defects were also observed early in E9.5 facial prominences, indicating that they may drive the adult phenotype. Collectively, Specc1l ΔCNCC mice provide a novel model for investigating the roles of CNCCs, primary cilia, and Hh signaling in frontonasal prominence and midfacial development.
Publicações recentes
Mast cell mediators in hereditary angioedema.
Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
📚 EuropePMCmostrando 198
Effect of Sagittal Maxillary Rotation on Inferior Scleral Exposure in Class III Maxillary Deficiency.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsCase Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections.
Frontiers in geneticsExploring the role of TWIST1 in malocclusion and craniofacial morphology.
Frontiers in physiologyCraniofacial Dysmorphology Associated With Phelan-McDermid Syndrome Using Three-Dimensional Morphometrics.
Clinical geneticsLoss of SPECC1L in cranial neural crest cells results in increased hedgehog signaling and frontonasal dysplasia.
Frontiers in physiologyExpanding the mutational spectrum of RAD50: a case report of Nijmegen breakage syndrome-like disorder in a Chinese child.
GeneOrbital and Ophthalmologic Injuries Associated With Standing Electric Scooter Accidents: A Narrative Synthesis of Clinical Outcomes and Injury Patterns.
CureusClinical distribution patterns and histopathological features of 2016 cases of basal cell carcinoma: a retrospective study from Southwest China.
European journal of medical researchLong-term morphometric and functional outcomes of frontofacial advancement in syndromic craniosynostosis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryThe clue on the bleeding face: Unpacking MiTES (midface toddler excoriation syndrome) through genetics and behaviour.
Asian journal of psychiatryMedial Femoral Condyle Flap for Nasal Support in Cocaine-Induced Midline Destruction.
Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of IndiaThe APERT Severity Scale: A Quantitative Tool for Risk Stratification in Apert Syndrome.
Plastic and reconstructive surgeryNovel Biallelic TGFBR3 Mutation in Brothers Presenting With Craniosynostosis.
American journal of medical genetics. Part AMid-face toddler excoriation syndrome (MiTES): A case series.
Indian journal of dermatology, venereology and leprologyStandard medical care versus enhanced interdisciplinary care for implementation of positive airway pressure in youth with Down syndrome: a randomised controlled trial protocol.
BMJ openMidface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model.
Journal of visualized experiments : JoVEEvaluation of the Mid and Lower Face in Three Females With Myhre Syndrome: Objective Methods to Supplement Subjective Assessment.
American journal of medical genetics. Part C, Seminars in medical geneticsFrom FGFR2 mutations to precision management: a review of prenatal diagnosis and multidisciplinary interventions in apert syndrome.
Frontiers in pediatrics9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.
American journal of medical genetics. Part ACranial base and midfacial morphology in pfeiffer syndrome: A 3D quantitative analysis.
Journal of stomatology, oral and maxillofacial surgeryCrouzonodermoskeletal syndrome requires individualized surgical management: Scoping review of a rare complex craniofacial syndrome.
JPRAS openAn Uncommon Case of Hypophosphataemia-Non-Lethal Raine Syndrome With Novel FAM20C Variant: Expanding the Phenotypic Spectrum.
American journal of medical genetics. Part A[Intermediate butterfly osteotomy with rigid external distraction in Crouzon syndromes].
Annales de chirurgie plastique et esthetiquePositive Impact of Frontofacial Advancement on Intracranial Volumes in Patients With Syndromic Craniofaciosynostosis.
Plastic and reconstructive surgery. Global openAnesthetic Management of Progressive Deformity of Tracheal Cartilaginous Sleeve in a Pediatric Patient With Beare-Stevenson Syndrome: A Case Report.
Case reports in anesthesiologyContributing Factors for Angle's Class III Phenotype in Crouzon Syndrome.
European journal of paediatric dentistryClinical and Oral Manifestations in a Patient with Lenz-Majewski Syndrome: A Rare Case Report.
BMC oral healthRipply3 overdosage induces mid-face shortening through Tbx1 downregulation in Down syndrome models.
PLoS geneticsClinical features, pathophysiological mechanisms, and multidisciplinary management strategies for rhinitis-induced adenoid facies in children and adolescents: a review.
Frontiers in allergyOptimising anaesthetic management during fronto-orbital advancement in an infant with Apert syndrome.
BMJ case reportsSimultaneous Le Fort III and Le Fort I Osteotomies for Rare Midfacial Hypoplasia in a Patient with 15q11.2 Microdeletion-A Multidisciplinary Approach.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationHeterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome.
Developmental dynamics : an official publication of the American Association of AnatomistsCase Report: The widening genetic and phenotypic spectrum of ultra-rare PDE4D-related acroscyphodysplasia.
Frontiers in medicineVolumetric variations in the buccal fat pad, parapharyngeal adipose corpus, and orbital fat according to sex, age, and body mass index: an MRI study with segmentation.
International journal of oral and maxillofacial surgeryAbsence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation.
American journal of medical genetics. Part APrenatal diagnosis of Apert syndrome with continuation of pregnancy-a report of two cases.
Translational pediatricsLeFort III distraction in patients with syndromic craniosynostosis: Is overcorrection beneficial?
Journal of plastic, reconstructive & aesthetic surgery : JPRASShould XYY syndrome be considered in the differential diagnosis of syndromic myopia? Apropos of a case.
Archivos de la Sociedad Espanola de OftalmologiaWnt5a gain- and loss-of-function present distinctly in craniofacial bone.
bioRxiv : the preprint server for biologyMidface Toddler Excoriation Syndrome (MiTES) - A Case Report and Brief Review of Literature.
Indian dermatology online journalExperiences of Children With Down Syndrome and Caregivers Using Contactless Sleep Monitoring as Polysomnography Alternative.
Journal of developmental and behavioral pediatrics : JDBPLong-Term Midfacial Growth and Speech Outcomes Following Modified Furlow Double-Opposing Z-Palatoplasty.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationObstructive Sleep Apnoea in Patients with Treacher Collins Syndrome-A Narrative Review.
Journal of clinical medicineEnhancing Predictive Tools for Skeletal Growth and Craniofacial Morphology in Syndromic Craniosynostosis: A Focus on Cranial Base Variables.
Diagnostics (Basel, Switzerland)Enhanced Sutural Protraction: An Innovative Orthopedic Protocol for Midfacial Advancement in Growing Patients.
The Journal of craniofacial surgeryFacial asymmetry in syndromic craniosynostosis patients undergoing midface surgery compared to a large general population.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryA Rare Case of Pyknodysostosis (Toulouse-Lautrec Syndrome): Dental Perspectives on Comprehensive Management.
Journal of clinical and experimental dentistryA Rare Case of Prenatally Diagnosed Pfeiffer Syndrome with Multicystic Kidney.
Journal of obstetrics and gynaecology of IndiaUnveiling the Phenotypic Spectrum of Miller Syndrome: A Systematic Review.
The Journal of craniofacial surgeryFathoming the scientific paradox of intangibles: protocol reappraisal for optimizing cognitive outcomes in faciocraniosynostosis-an institutional experience.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryThree-dimensional assessment of outcomes of surgical midface advancement in syndromic craniosynostosis: A systematic review.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryChaos to Flow: Categorization, Nomenclature to Problem Mapping: Unified Interdisciplinary Language in Craniosynostoses.
The Journal of craniofacial surgeryHairline Polycaprolactone Injections for Facial Lifting: An Anatomical-Based Approach.
The Journal of craniofacial surgeryInsight into Apert Syndrome: Reporting on Six Patients and Increasing Awareness.
Molecular neurobiologyAntley-Bixler syndrome: a case report on virtual planning for monobloc distraction osteogenesis and a surgical intervention narrative review.
Journal of stomatology, oral and maxillofacial surgeryRespiratory and craniofacial management in children with Apert syndrome.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryMaximizing the functional benefits of posterior calvarial vault distraction in syndromic craniosynostoses: a nuanced approach to volume, vein, vector, and the vexed challenge of functional outcome in craniosynostoses.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryUpper Airway Obstruction Trends in Craniofacial Syndromes: A Comparative Study.
The Journal of craniofacial surgeryClinical Nasal Deviation Following Midface Advancement in Patients With Syndromic Craniosynostosis.
The Journal of craniofacial surgery[A case report of Muenke syndrome with soft cleft palate and literature review].
Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatologyDeletion of sf3b4 causes splicing defects and gene dysregulation that disrupt craniofacial development and survival.
Disease models & mechanismsComputed tomographic assessment of orbital and maxillary dysmorphology in craniofacial microsomia.
American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of OrthodonticsThe cranial base and midface characteristics in apert and Crouzon syndrome: A 3-dimensional analysis of morphological variations.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryMidface Toddler Excoriation Syndrome (MiTES): A Review.
Pediatric dermatologyAirway management of a child of Crouzon syndrome with midface distractor in situ.
Journal of anaesthesiology, clinical pharmacologyPostnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations.
American journal of medical genetics. Part APerioperative Airway Management for Midface Surgery in Children With Syndromic Craniosynostosis; a Single Center Experience With Immediate Extubation.
Paediatric anaesthesiaOrthognathic surgery in syndromic craniosynostosis: Incorporating midface morphometric analysis and dental parameters in surgical planning.
Current problems in surgeryImpact of Lefort III/ monobloc advancement on midface growth in children with syndromic craniosynostosis: A systematic review.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryKabuki Syndrome: Case Report of Severe Prenatal Midface Hypoplasia (Binder Phenotype), due to a Novel Variant in the KMT2D Gene.
Molecular syndromologyThe oral and maxillofacial manifestations of Stickler syndrome: A systematic review.
Journal of stomatology, oral and maxillofacial surgerySimultaneous Lefort 2 Distraction and Fronto-Orbito-Malar Advancement: Correcting Severe Upper and Midface Retrusion in a Patient With Crouzon Syndrome.
The Journal of craniofacial surgeryMidface toddler excoriation syndrome: a case report.
International journal of dermatologyCase reports of oral appliance therapy on three young adults with Down syndrome and OSA.
Journal of prosthodontics : official journal of the American College of ProsthodontistsSocial Perceptions of Preoperative and Postoperative Photographs of Patients With Syndromic Craniosynostosis Undergoing Le Fort III Advancement.
The Journal of craniofacial surgeryManagement of Midface Deficiency in Syndromic Craniosynostosis with Lefort III Distraction Osteogenesis, Outcomes, and Pitfalls.
Journal of maxillofacial and oral surgeryNaso-alveolar Asymmetry in Unilateral Cleft Lip and Palate Patients-CT Analysis of the Paranasal Region.
The Journal of craniofacial surgeryDiscussion: A European Multicenter Outcome Study of Perioperative Airway Management Policies following Midface Surgery in Syndromic Craniosynostosis.
Plastic and reconstructive surgeryCraniosynostosis in Siblings, an Extremely Rare Occurrence: A Case Report.
Clinical case reportsTranexamic Acid is Associated With Reduced Blood Loss and Transfusion Requirement in Pediatric Midface Reconstruction.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsProlonged Ventilator Dependency in a Pediatric ICU Patient With Pfeiffer Syndrome Following Le Fort I Osteotomy and Distraction Osteogenesis: A Case Report.
CureusSoftware-assisted bone thickness evaluation in patients with syndromic craniosynostosis undergoing Le Fort III osteotomy: a technical note.
International journal of oral and maxillofacial surgeryRole of Nasopharyngeal Airway in Management of Craniofacial Syndrome-Associated Upper Airway Obstruction in Children.
Orthodontics & craniofacial researchThree-Dimensional Facial Morphology in Patients with Craniofacial Microsomia and Microtia.
Plastic and reconstructive surgeryPeriocular manifestations of blepharocheilodontic syndrome and their management: case series and literature review.
Orbit (Amsterdam, Netherlands)Anterior maxillary distraction for cleft palate associated severe hypoplastic maxillary Class III deformity during adolescence - A case report.
International orthodonticsSkeletal and Soft Tissue Surgeries in the Long-term Management of Patients With Syndromic Craniosynostosis: A 20-Year Review.
Annals of plastic surgeryA 3-Dimensional Morphometric Analysis of 4 Midsagittal Planes for CT Scan Reference Determination in Children with Syndromic Craniosynostosis.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationApert syndrome and obstructive sleep apnea: Timing for midface surgery.
Cranio : the journal of craniomandibular practiceLong-term photogrammetric outcomes of midface advancement in Apert syndrome: are we nearing normal?
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryClinical analysis of Le Fort III distraction for obstructive sleep apnea in pediatric patients with syndromic craniosynostosis.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryStepwise surgical management of binder syndrome with skeletal class III malocclusion in adults.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryNew CRISPR/Cas9-based Fgfr2C361Y/+ mouse model of Crouzon syndrome exhibits skull and behavioral abnormalities.
Journal of molecular medicine (Berlin, Germany)Prenatal diagnosis and management of Apert syndrome in a low-middle income country: Case report.
International journal of surgery case reportsEmphasis on Early Prenatal Diagnosis and Perinatal Outcomes Analysis of Apert Syndrome.
Diagnostics (Basel, Switzerland)Early Cranioplasty in an Apert's Syndrome Infant With Occipital Encephalocele.
The Journal of craniofacial surgeryMidface asymmetry in non-syndromic unilateral cleft lip-palate: a retrospective cbct analysis.
European oral researchMystery of the Muenke midface: spheno-occipital synchondrosis fusion and craniofacial skeletal patterns.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryUnexpected massive bleeding during the modified LeFort III advancement surgery for Crouzon syndrome: A case report.
Clinical case reportsGPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesis.
American journal of medical genetics. Part AEarly posterior vault distraction osteogenesis changes the syndromic craniosynostosis treatment paradigm: long-term outcomes of a 23-year cohort study.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryMorbihan Disease: A Rare Case of Periorbital Bilateral Edema with Histopathological Findings of Chronic Inflammation and Demodex Localization.
The American journal of case reportsPerioperative Care for Children With Syndromic Craniofacial Synostosis Undergoing Le Fort III Surgery: A Retrospective Cohort Study.
The Journal of craniofacial surgeryLong-Term Follow-Up of Apert Syndrome Following Mid-Face Advancement: More Than 3 Decades Later.
The Journal of craniofacial surgeryA New Approach in Management of Orbital Adherence Syndrome.
The Journal of craniofacial surgeryPerinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II.
Taiwanese journal of obstetrics & gynecologyCASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patient.
American journal of medical genetics. Part ACerebrocostomandibular syndrome: a diagnostic challenge.
BMJ case reportsThree-dimensional quantification of soft tissue changes and its relationship to skeletal changes after Le Fort III, monobloc, and facial bipartition in syndromic craniosynostosis.
International journal of oral and maxillofacial surgeryNovel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature.
BMC pediatricsBeckwith-Wiedemann Syndrome With Severe Relapsing Hypoglycemia After the Neonatal Period: A Case Report and a Literature Review.
CureusPrenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).
European journal of medical geneticsSuccessful reverse total shoulder replacement in a patient with Apert syndrome.
Shoulder & elbowRetinal detachment with multiple macrocysts in Stickler syndrome: case report and review of the literature.
Frontiers in medicineSkeletal changes after midface surgery in patients with craniofacial deformities: a three-dimensional quantification method.
International journal of oral and maxillofacial surgeryThe Kaleidoscope of Midface Management in Apert Syndrome: A 23-Year Single-Institution Experience.
Plastic and reconstructive surgerySpeech and Language Development, Hearing, and Feeding in Patients With Genetically Confirmed Crouzon Syndrome With Acanthosis Nigricans: A 36-Year Longitudinal Retrospective Review of Patients at the Oxford Craniofacial Unit.
The Journal of craniofacial surgeryParallel needling technique for peripheral facial paralysis with qi deficiency and blood stasis: a randomized controlled trial.
Zhongguo zhen jiu = Chinese acupuncture & moxibustionPitfall of Monobloc Advancement in Beare-Stevenson Syndrome.
The Journal of craniofacial surgeryFacial Analysis of Patients with Unilateral or Bilateral Cleft Lip and Palate Using 3D Stereophotogrammetry.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationSf3b4 mutation in Xenopus tropicalis causes RNA splicing defects followed by massive gene dysregulation that disrupt cranial neural crest development.
bioRxiv : the preprint server for biologyDelayed onset enophthalmos and hypoglobus mimicking silent sinus syndrome following midface trauma.
BMJ case reportsCraniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis.
Pediatric researchChanges in mandibular position during midface distraction in patients with syndromic craniosynostosis.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryExpanding the phenotype of UPF3B-related disorder: Case reports and literature review.
American journal of medical genetics. Part ACorrelation analysis of airway-facial phenotype in Crouzon syndrome by geometric morphometrics: A promising method for non-radiation airway evaluation.
Orthodontics & craniofacial researchA European Multicenter Outcome Study of Perioperative Airway Management Policies following Midface Surgery in Syndromic Craniosynostosis.
Plastic and reconstructive surgeryDelayed Postnatal Synostosis without Spheno-occipital Synchondrosis Fusion: A Curious Case of Apert Syndrome.
Plastic and reconstructive surgery. Global openQuantitative Assessment of Periocular Autologous Fat Transfer Survival Using 3D Stereophotogrammetric Imaging.
Ophthalmic plastic and reconstructive surgeryAnaesthetic management in midface toddler excoriation syndrome (MiTES)- A case report.
Indian journal of anaesthesiaTFAP2 paralogs regulate midfacial development in part through a conserved ALX genetic pathway.
Development (Cambridge, England)Perioperative Management of Obstructive Sleep Apnea in Patients With Syndromic Craniosynostosis Undergoing LeFort III Osteotomy With Distraction: A Case Series.
Craniomaxillofacial trauma & reconstructionCrouzon Syndrome Spanning Three Generations: Advances in the Treatment of Syndromic Midface Deficiency.
Plastic and reconstructive surgery. Global openUnraveling the Complexity of Apert Syndrome: Genetics, Clinical Insights, and Future Frontiers.
CureusPrenatal diagnosis of Hartsfield syndrome with a novel genetic variant.
Prenatal diagnosisFacial Overfilled Syndrome.
Dermatologic clinicsLeFort III Versus Monobloc Frontofacial Advancement: A Comparative Analysis of Soft Tissue Changes.
The Journal of craniofacial surgerySpecific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.
Nature communicationsSurgical Correction of Cicatricial Lower Eyelid Retraction: A Systematic Review.
Seminars in ophthalmologyIdentification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance.
Molecular genetics & genomic medicineExpanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias.
The Yale journal of biology and medicineKleefstra Syndrome-Dental Manifestations and Needs: A Case Report with a Literature Review.
Case reports in dentistryMidface hypoplasia in syndromic craniosynostosis: predicting craniofacial growth via a novel regression model from anatomical morphometric analysis.
International journal of oral and maxillofacial surgeryOutcome of Bilateral Hand Reconstruction in a Child Presenting Late With Apert Syndrome: A Case Report and Literature Review.
CureusPredictors of NIV-related adverse events in children using long-term noninvasive ventilation.
Pediatric pulmonologyConsiderations in Eyelid Reconstruction in Treacher Collins Syndrome: A Scoping Review.
FACE (Thousand Oaks, Calif.)Beckwith-Wiedemann syndrome with multiple hepatic and cutaneous hemangiomas in a female patient of Albanian origin: Diagnostic and therapeutic considerations.
American journal of medical genetics. Part ACautionary case for radial forearm free flap use in trisomy 21.
Head & neckCleft Lip and Cleft Palate: Time to Include Orofacial Ultrasound Markers Into the First-Trimester Anatomy Scan?
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in MedicineOxycephaly-systematic review, case presentation, and diagnostic clarification.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryThe Role of Airway Management on Feeding Difficulties in Children With Pfeiffer Syndrome.
The Journal of craniofacial surgeryCandidate genes for obstructive sleep apnea in non-syndromic children with craniofacial dysmorphisms - a narrative review.
Frontiers in pediatricsDistribution and Phenotype of Goldenhar Syndrome and Its Association With Other Anomalies.
The Journal of craniofacial surgerySevere midface and maxillary hypoplasia in non-cleft and non-syndromic patients: A 2-stage surgical strategy using distraction osteogenesis and orthognathic surgery.
Journal of stomatology, oral and maxillofacial surgeryThe biomechanics of chewing and suckling in the infant: A potential mechanism for physiologic metopic suture closure.
PLoS computational biologyApert Syndrome: Selection Rationale for Midface Advancement Technique.
Advances and technical standards in neurosurgeryTracheobronchial Tree Ossification in a 5-Year-Old Boy with Keutel Syndrome: A Case Report.
The journal of Tehran Heart CenterTMJ Ankylosis Following Mandibular Distraction Osteogenesis: Management With Simultaneous Midface External Distraction and Bilateral Temporomandibular Joint Replacement.
The Journal of craniofacial surgeryCraniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
Journal of medical geneticsFacial skeleton dysmorphology in syndromic craniosynostosis: differences between FGFR2 and no-FGFR2-related syndromes and relationship with skull base and facial sutural patterns.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryTrichorhinophalangeal syndrome type 1 (Giedion syndrome): A case report with literature review.
Reumatologia clinicaMysterious Bilateral Foot Pain in a Child With Crouzon Syndrome.
CureusA Filipino Child with Schinzel-Giedion Syndrome.
Acta medica PhilippinaLong-term treatment outcome of patients with complete bilateral cleft lip and palate: a retrospective cohort study.
International journal of surgery (London, England)Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients.
Orphanet journal of rare diseasesPrenatal Diagnosis of Gómez-López-Hernández Syndrome.
Fetal diagnosis and therapy[Clinical characteristics and genetic variant analysis of a child with Snijders Blok-Campeau syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsBosma Arhinia Microphthalmia Syndrome (BAMS): First Report from Vietnam.
CureusChromosome 6p25 deletion syndrome: A case report and review of ophthalmic features.
American journal of medical genetics. Part AUseful Genioplasty for Repeated Recurrent Sleep Apnea of Congenital Anomalies and Its Evaluation.
Plastic and reconstructive surgery. Global openMolecular Scalpels: The Future of Pediatric Craniofacial Surgery?
Plastic and reconstructive surgeryFrontonasal Dysplasia: A Diagnostic Challenge with Fetal MRI in Twin Pregnancy.
Child neurology openComparison of Internal and External Distraction in Frontofacial Monobloc Advancement: A Three-Dimensional Quantification.
Plastic and reconstructive surgery[Audiological phenotypes of Antlet-Bixler syndrome: a case report and literatures review].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryPrior fronto-orbital advancement associated with complications from transcranial midface surgery in patients with syndromic craniosynostosis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPost-Covid Orofacial Mucormycosis: A Clinico-Radiological Classification System and Management Protocol.
Journal of maxillofacial and oral surgeryCranial Base Reconstruction and Secondary Frontal Advancement for Meningoencephalocele Following LeFort III Osteotomy in a Patient with Crouzon Syndrome: Case Report.
Archives of plastic surgeryModified Anterior Z Le Fort III Osteotomy.
Journal of maxillofacial and oral surgeryWhat to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review.
GenesPremaxillary Setback in Bilateral Cleft Lip and Palate Repair.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationLong term NIV in an infant with Hallermann-Streiff syndrome: A case report and overview of respiratory morbidity.
Frontiers in pediatricsSynchondrosis fusion contributes to the progression of postnatal craniofacial dysmorphology in syndromic craniosynostosis.
Journal of anatomyCleidocranial dysplasia with hypermobile Ehlers-Danlos syndrome: A case report.
Radiology case reportsClinical and Genetic Studies of the First Monozygotic Twins with Pfeiffer Syndrome.
GenesSimultaneous Le Fort III and Le Fort I Osteotomy: Surgical Outcomes and Clinical Parameters.
The Journal of craniofacial surgeryDetection of a novel SETBP1 variant in a Chinese neonate with Schinzel-Giedion syndrome.
Frontiers in pediatricsOrofacial Deformities in 3 Related Rhesus Monkeys (Macaca mulatta) Resembling Human Binder's Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationImaging of Congenital Craniofacial Anomalies and Syndromes.
Clinics in perinatologyFontaine progeroid syndrome-A case report.
Clinical case reportsA Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationMalignant Sarcomatous Degeneration of Craniofacial Fibrous Dysplasia.
The Journal of craniofacial surgerySurgical Challenges in the Management of Post COVID-19 Midface Mucormycosis (PCoMM): An Institutional Protocol.
The Journal of craniofacial surgeryFacial Onset Sensory and Motor Neuronopathy-Like Syndrome: A Case Report.
Journal of clinical neuromuscular diseaseCleft Palate in Apert Syndrome.
Journal of developmental biologyDental and Maxillofacial Manifestations of Axenfeld-Rieger Syndrome: Presentation of a Case in a 5-Year-Old Girl.
Case reports in dentistrySurgical Treatment and Outcome of Acquired Midline Palate Defects in Cats.
Frontiers in veterinary scienceOrthognathic Surgery in Patients with Syndromic Craniosynostosis.
Oral and maxillofacial surgery clinics of North AmericaSubcranial Midface Advancement in Patients with Syndromic Craniosynostosis.
Oral and maxillofacial surgery clinics of North AmericaAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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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.
- Craniofacial Dysmorphology Associated With Phelan-McDermid Syndrome Using Three-Dimensional Morphometrics.
- Effect of Sagittal Maxillary Rotation on Inferior Scleral Exposure in Class III Maxillary Deficiency.Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons· 2026· PMID 41831832mais citado
- Case Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections.
- Exploring the role of TWIST1 in malocclusion and craniofacial morphology.
- Loss of SPECC1L in cranial neural crest cells results in increased hedgehog signaling and frontonasal dysplasia.
- Mast cell mediators in hereditary angioedema.
- Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
- Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
- The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
- Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:688581(Orphanet)
- OMIM OMIM:300990(OMIM)
- MONDO:0010516(MONDO)
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
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
