Doença rara, genética, de envelhecimento precoce, caracterizada por surdez neurossensorial, diminuição generalizada do tecido adiposo subcutâneo (embora com deposição aumentada na região do tronco) observada desde a infância, esclerodermia e dismorfias faciais que incluem olhos proeminentes, nariz em bico, boca pequena, dentes apinhados e hipoplasia mandibular. Outras características associadas incluem atraso estaturoponderal, contraturas articulares, telangiectasias, hipogonadismo (com ausência de desenvolvimento mamário no sexo feminino), criptorquidia, atrofia do músculo esquelético, hipertrigliceridemia e diabetes mellitus/resistência à insulina.
Introdução
O que você precisa saber de cara
Doença rara, genética, de envelhecimento precoce, caracterizada por surdez neurossensorial, generalizada do tecido adiposo subcutâneo (embora com deposição aumentada na região do tronco) observada desde a infância, esclerodermia e dismorfias aparentes que incluem olhos proeminentes, nariz em bico, boca pequena, dentes apinhados e hipoplasia mandibular. Outras características associadas incluem atraso estaturoponderal, contraturas articulares, telangiectasias, hipogonadismo (com ausência de desenvolvimento mamário no sexo feminino), criptorquidia, atrofia do músculo esquelético, hipertrigliceridemia e diabetes mellitus/resistência à insulina.
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
+ 8 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 27 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: Autosomal dominant.
As the catalytic component of the trimeric (Pol-delta3 complex) and tetrameric DNA polymerase delta complexes (Pol-delta4 complex), plays a crucial role in high fidelity genome replication, including in lagging strand synthesis, and repair (PubMed:16510448, PubMed:19074196, PubMed:20334433, PubMed:24022480, PubMed:24035200, PubMed:31449058). Exhibits both DNA polymerase and 3'- to 5'-exonuclease activities (PubMed:16510448, PubMed:19074196, PubMed:20334433, PubMed:24022480, PubMed:24035200). Req
Nucleus
Colorectal cancer 10
A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.
Variantes genéticas (ClinVar)
629 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
18 vias biológicas associadas aos genes desta condição.
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 progeroide-surdez-hipoplasia mandibular
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
Comparison of craniofacial skeletal morphology in pediatric obstructive sleep apnea-hypopnea syndrome patients with class II and class III malocclusions: a retrospective cross-sectional study.
This study aimed to investigate craniofacial skeletal morphology in pediatric obstructive sleep apnea-hypopnea syndrome (OSAHS) patients with different malocclusion types. A retrospective cross-sectional analysis study was conducted at Chengdu Second People's Hospital from 2023 to 2024. A total of 299 children diagnosed with OSAHS (aged 10-12 years) were included. Craniofacial structures were assessed using Jarabak and Ricketts methods. Patients were divided by malocclusion type: Class II (n = 150, 56.7% male, mean age 11.2 ± 0.6) and Class III (n = 149, 50.3% male, mean age 11.4 ± 0.8). Group differences in cephalometric parameters were compared using independent samples t-tests and Mann-Whitney U tests, as appropriate. Significant differences were found between groups. Compared to Class II, Class III patients had lower ANB angle (-2.8 ± 2.6° vs. 5.6 ± 1.9°, Cohen's d = 1.23), Wits appraisal (-2.9 ± 3.7 mm vs. 2.6 ± 0.7 mm, Cohen's d = 2.02), SN:GoMe (103.1 ± 6.0% vs. 106.7 ± 9.0%, Cohen's d = 0.48), MP/FH (32.9 ± 2.99° vs. 37.3 ± 2.65°, Cohen's d = 1.57), Xi-Pm/DC-Xi (29.3 ± 2.1° vs. 24.6 ± 3.1°, Cohen's d = 1.81), and ANS-Xi-Pm (47.8 ± 2.9° vs. 50.7 ± 2.4°, Cohen's d = 1.11) (all P < 0.05). Class III patients showed higher S-Ar:Ar-Go (75.9 ± 7.2% vs. 80.9 ± 13.0%, Cohen's d = 0.48), NP/FH (88.1 ± 2.9° vs. 83.1 ± 1.86°, Cohen's d = 2.14), Pt-Gn/Ba-N (92.2 ± 2.1° vs. 79.6 ± 2.4°, Cohen's d = 5.44), and Hy-C3 distance (5.8 ± 0.9 mm vs. 3.4 ± 0.4 mm, Cohen's d = 3.26) (all P < 0.05). No significant differences were observed in other parameters (N-S-Ar, S-Ar-Go; P > 0.05). Distinct craniofacial skeletal patterns exist in pediatric OSAHS patients with different malocclusions. Class III patients demonstrate mandibular growth restriction with compensatory protrusion, while Class II patients display high-angle, long-face morphology with clockwise growth rotation. These findings have important clinical implications for individualized orthodontic and surgical planning in the management of pediatric OSAHS, highlighting the need for early assessment of craniofacial structure in affected children.
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.
Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families.
Treacher Collins syndrome (TCS) is a rare disorder within the group of mandibulofacial dysostoses, occurring in 1 in 50,000 live births. It is characterized by anomalies in the maxillary, mandibular, and stapes bones, among others. TCS is caused by pathogenic variants in the TCOF1, POLR1D, POLR1C, and POLR1B genes with autosomal dominant or recessive inheritance patterns. Genetic data from Latin American populations remain scarce. Eleven patients from three different families were recruited. Whole-exome sequencing (WES) was performed on the probands to identify genetic variants, followed by Sanger sequencing for variant validation and familial segregation analysis. Finally, three-dimensional protein structures of wild-type and mutant proteins were predicted. In Family 1, a heterozygous pathogenic splice-site variant in the TCOF1 gene, c.4345 + 1 G > A, was identified and inherited from her mother. In Family 2, a heterozygous pathogenic variant in the TCOF1 gene, c.226_227insC (p.R77fs), was identified and inherited from the paternal lineage. In Family 3, a heterozygous pathogenic POLR1D variant, c.290_291delAG (p.G99fs), was identified among multiple affected relatives; direct parent-of-origin could not be established due to unavailability of one parent, but segregation supports autosomal dominant transmission across three generations. All findings were validated by Sanger sequencing. Our findings highlight the utility of WES for the molecular diagnosis of TCS and underscore the importance of including underrepresented populations in genetic studies to improve diagnosis, genetic counseling, and perinatal planning in at-risk pregnancies.
Triple-hit diffuse large B-cell lymphoma with choroidal and cavernous sinus involvement mimicking inflammatory and neuro-ophthalmic disease: case report.
To describe our findings in a rare case of secondary triple-hit diffuse large B-cell lymphoma (DLBCL) with choroidal and central nervous system (CNS) involvement, presenting with bilateral serous retinal detachments (SRD) and ophthalmoplegia. A 44-year-old male presented with a 4-month history of bilateral vision loss, right-sided headaches radiating to the periorbital area, and oral numbness within the mental nerve distribution. Review of systems was notable for unintentional 25-pound weight loss and chronic back pain. Corrected visual acuities were 20/150 in the right eye and 20/50 in the left. External exam showed remarkable results for right-sided ptosis, diminished pupillary light response without afferent pupillary defect, and limitation of extraocular movements in all gazes. Fundus examination showed bilateral, multifocal SRD with associated increased choroidal thickness. Systemic workup showed right-sided prominence of the cavernous sinus, heterogeneous bone marrow signal throughout the spine, splenomegaly, retroperitoneal lymphadenopathy, and a hypodense hepatic lesion. Cerebrospinal fluid analysis revealed elevated white blood cell count and protein concentration. A lymph node biopsy revealed DLBCL with Bcl6, Bcl2, and c-Myc rearrangements. Treatment with combined intrathecal and systemic chemotherapy resulted in significant improvement in both systemic and ocular symptoms. This case underscores the importance of considering secondary lymphoma in patients presenting with bilateral SRD and neuro-ophthalmic deficits, even in the absence of known systemic malignancy. The combination of cavernous sinus syndrome with concomitant mandibular nerve involvement should prompt CNS and systemic evaluation for hematologic malignancy. Patients with triple-hit DLBCL phenotype may achieve dramatic visual recovery following modern targeted chemoimmunotherapy.
Treatment of Feline Lung-Digit Syndrome with Toceranib Phosphate: Prolonged Survival and Novel Metastatic Findings.
Feline pulmonary carcinomas are rare and often carry a poor prognosis, particularly when associated with feline lung-digit syndrome. We report a cat with primary pulmonary carcinoma and extensive metastases-including digits, pleura, mandible, scapula, spleen, skeletal muscle, and distant lymph nodes-supporting the broader "MODAL syndrome" concept. Palliative therapy with toceranib phosphate and meloxicam achieved prolonged survival and excellent quality of life, with no adverse effects despite dose escalation. Rapid progression after discontinuation suggests a role for toceranib in delaying tumour growth. Immunohistochemistry revealed c-kit expression in one metastatic lesion but not in the primary tumour or most metastases, highlighting intratumoral heterogeneity and the complexity of targeted therapy. The observed benefit likely reflects toceranib's multi-target activity (VEGFR2, PDGFR), impacting angiogenesis and tumour progression. This case represents the first report of toceranib phosphate use in feline pulmonary carcinoma and underscores its potential as a palliative option.
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📚 EuropePMC1 artigos no totalmostrando 199
Comparison of craniofacial skeletal morphology in pediatric obstructive sleep apnea-hypopnea syndrome patients with class II and class III malocclusions: a retrospective cross-sectional study.
Frontiers in pediatricsTriple-hit diffuse large B-cell lymphoma with choroidal and cavernous sinus involvement mimicking inflammatory and neuro-ophthalmic disease: case report.
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Sleep & breathing = Schlaf & Atmung[A PhD completed. Treatment strategies for chronic diffuse sclerosing osteomyelitis of the mandible].
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European journal of radiologyGrowth Standards for Children With Smith-Magenis Syndrome (SMS).
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Journal of sleep researchBuccolingual and arch distribution patterns of permanent teeth impactions in an Egyptian population: a CBCT-based retrospective analysis.
BMC oral healthEfficacy of photobiomodulation therapy using 980 nm versus 635 nm diode lasers for treatment of myofascial pain : a randomized controlled trial.
BMC oral healthCase Report: A novel heterozygous variant of the TCOF1 gene in Treacher Collins syndrome.
Frontiers in pediatricsCorrelation between the number and pattern of lateral pterygoid muscle attachments and pathologic changes of the temporomandibular joint according to Hegab stages based on MRI findings of 510 joints.
Scientific reportsSubtle Manifestation of Lower Cavernous Sinus Syndrome as the Initial and Sole Presentation of Pterygopalatine Squamous Cell Carcinoma Invasion from the Skull Base: A Case Report.
Acta neurologica TaiwanicaA novel phex gene variant causes non-syndromic tooth agenesis.
BMC oral healthModified Mandibular Advancement Device Is Effective in Patients With Insufficient Teeth: A Systematic Review.
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Journal of oral biology and craniofacial researchPeriostitis Ossificans in a Litter of Belgian Malinois Puppies.
Journal of veterinary dentistryRipply3 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 allergySleep-Disordered Breathing in Children With Craniofacial Syndromes.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationClinical Images: Successfully treated mandibular osteomyelitis by tumor necrosis factor inhibitor in SAPHO syndrome.
Arthritis & rheumatology (Hoboken, N.J.)Loss of Stat3 in Prx1+ Progenitors Impairs Molar Root Development.
Advanced biology[Screening for sleep apnea-hypopnea syndrome : data from Liège University Hospital Center with a mandibular movement measurement device (Brizzy].
Revue medicale de LiegeHuman-like malformations in anole lizards: Potential cases of "hopeful monsters" resembling chameleon morphology.
Journal of anatomyFacial Flushing (Harlequin Syndrome) Following Radiofrequency Ablation Of The Trigeminal Ganglion: A Case Report.
Pain medicine case reportsOrthodontic Perspectives in the Interdisciplinary Management of Pediatric Obstructive Sleep Apnea.
Children (Basel, Switzerland)Management of asymmetrical presentation of non-syndromic mandibular supernumerary teeth: a case report.
Annals of medicine and surgery (2012)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 AssociationApplication of four-section approach for prenatal diagnosis of Pierre robin sequence.
Journal of medical ultrasonics (2001)Jacobsen Syndrome, Paris-Trousseau Syndrome, and Dental Extractions: Case Report, Medical, Dental, and Social Considerations.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryAn update on sleep disordered breathing in spinal cord injury.
Current opinion in pulmonary medicineKnowledge, 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 AssociationIsolated and Combined Laser Acupuncture and Occlusal Device Therapy in TMD Myalgia: A Randomised Controlled Clinical Trial.
Journal of oral rehabilitationThree-dimensional cephalometric analysis of morphological characteristics in children with bilateral craniofacial microsomia.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryPresentation of Lemierre's Syndrome Secondary to Klebsiella pneumoniae-Caused Neck Abscess Following an Odontogenic Infection.
CureusA narrative review of persistent pain and overall quality of life after temporomandibular joint replacement.
Journal of stomatology, oral and maxillofacial surgeryMultidisciplinary Airway Management and Postoperative Planning in a Pediatric Patient With Unrepaired Treacher-Collins Syndrome: A Case Report.
CureusLeFort III distraction in patients with syndromic craniosynostosis: Is overcorrection beneficial?
Journal of plastic, reconstructive & aesthetic surgery : JPRASWnt5a gain- and loss-of-function present distinctly in craniofacial bone.
bioRxiv : the preprint server for biologyGorlin-Goltz Syndrome with Jaw and Minimal Skin Manifestations - A Case Report.
Annals of maxillofacial surgeryLong-Term Occlusal Outcomes for Conservative Management in Patients With Robin Sequence.
The LaryngoscopeA new objective titration procedure using Remotely Contactless Intelligent Sleep Monitoring System for the treatment of mandibular advancement device in OSAHS patient.
Frontiers in neurologyThe Incidence of Cysts and Tumors Related to Impacted Mandibular Third Molars in the Thai Population.
Journal of maxillofacial and oral surgeryAdverse 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 AssociationSurgical design and outcomes evaluation of two-jaw correction for short face syndrome with square jaw: A retrospective study.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryCombination Syndrome in Patients with Mandibular Implant Supported Overdenture and Conventional Maxillary Denture - A Systematic Review.
The European journal of prosthodontics and restorative dentistryMultimodal Physiotherapeutic Treatment in Adolescents With Temporomandibular Disorders: A Randomised Controlled Trial.
Journal of oral rehabilitationThe role of adenoid hypertrophy in obstructive sleep apnea outcomes post-mandibular distraction osteogenesis in patients with craniofacial microsomia.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineVariation in mandibular canal position in different sagittal skeletal patterns: a CBCT study.
Acta odontologica latinoamericana : AOLLemierre's Syndrome Presenting with Multisystem Complications in a Child: A Case Report and Literature Review.
Reports (MDPI)Surgical Treatment of Mandibular Coronoid Process Hypertrophy Syndrome.
Journal of clinical medicineFacial Bone Defects Associated with Lateral Facial Clefts Tessier Type 6, 7 and 8 in Syndromic Neurocristopathies: A Detailed Micro-CT Analysis on Historical Museum Specimens.
BiologyThree Decades of Managing Pediatric Obstructive Sleep Apnea Syndrome: What's Old, What's New.
Children (Basel, Switzerland)THE ROLE OF OZONE THERAPY IN THE TREATMENT OF TEMPOROMANDIBULAR DISORDERS: A SYSTEMATIC REVIEW.
The journal of evidence-based dental practiceInherited Lipodystrophy Associated With POLD1 and CAVIN1 Mutations: Two Cases From the Indian Subcontinent.
CureusAssessment of Associations Between Sociodemographic and Clinical Factors and Edentulism Complications in Patients Scheduled for Hybrid Prosthetic Therapy: A Cross-Sectional Study.
Clinics and practiceAnesthetic Management for an Elderly Patient With Severe Bronchiectasis.
Anesthesia progressObstructive Sleep Apnoea in Patients with Treacher Collins Syndrome-A Narrative Review.
Journal of clinical medicineA Multifaceted Crisis: Sickle Cell Disease Complicated by Pulmonary Embolism, Avascular Necrosis, and Numb Chin Syndrome.
CureusOral and Maxillofacial Manifestations of Gardner Syndrome: A Literature Analysis.
The Journal of craniofacial surgeryPerinatal Airway Risk for Individuals With Isolated Cleft Spectrum.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association[Combined orthodontic-orthognathic treatment of a short face syndrome case with severe overbite and overjet].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologySurgical Treatment of Facial Abscesses and Facial Surgery in Pet Rabbits.
The veterinary clinics of North America. Exotic animal practiceHaploinsufficiency of SF3B2 revealed by a craniofacial microsomia with atypical presentation: a case report.
Journal of stomatology, oral and maxillofacial surgeryEffects of rapid maxillary expansion and functional orthodontic treatment in children with sleep disordered breathing: a systematic review.
BMC oral healthA Single Institution Comparison of Speech Outcomes Following Palatoplasty in Stickler Syndrome.
Annals of plastic surgeryA Case of Endosteal Hyperostosis Caused by a Mutation of the Low-Density Lipoprotein Receptor-Related Protein 5 (LRP5) Gene.
CureusSymptomatic cracked teeth: Associations with patient-level and tooth-level factors-A case-control study.
Journal of dentistryMetronidazole-induced toxicity of the central and peripheral nervous system.
BMJ case reportsHyperparathyroidism-Jaw Tumor Syndrome Associated to a CDC73 Gene Pathogenic VARIANT and a Nonossifying Desmoplastic Fibroma of the Mandible.
Case reports in endocrinologyClarifying the Relationship Between Orbito-Zygomatic and Mandibular Dysmorphology in Treacher Collins Syndrome.
The Journal of craniofacial surgeryDe novo myeloid sarcoma of the oral cavity in early adolescence: an uncommon presentation with severe congenital neutropenia.
BMJ case reportsGenotype-phenotype analysis and functional study of three novel LRP6 variants in non-syndromic oligodontia.
Frontiers in geneticsAnalysis of the significance of risk factors in the development of temporomandibular joint dysfunction pain syndrome.
Wiadomosci lekarskie (Warsaw, Poland : 1960)Sleep medicine education in predoctoral dental programs of the United States: A nationwide cross-sectional survey.
Cranio : the journal of craniomandibular practiceA Rare Case of Pyknodysostosis (Toulouse-Lautrec Syndrome): Dental Perspectives on Comprehensive Management.
Journal of clinical and experimental dentistryCan combination syndrome influence functional performance and peri-implant bone remodeling in mandibular overdenture users? Results from a 5-year cohort study.
Journal of dentistryTreatment Strategies for Craniofacial Microsomia Patients With Obstructive Sleep Apnea: A Systematic Review.
The Journal of craniofacial surgeryFounder Pathogenic Variant in LMNA with Diverse Phenotypic Manifestations in Mandibuloacral Dysplasia: Insights from a Turkish Cohort.
Journal of clinical research in pediatric endocrinologyA Novel Skeletal Dysplasia With Premaxilla Overgrowth, Gingival Hyperplasia, and Dental Hypercementosis.
Clinical geneticsUpper Airway Morphologic Changes in Rubinstein-Taybi Syndrome After Orthognathic Surgery: A Case Report.
Journal of maxillofacial and oral surgeryPerioperative care in pediatric OTC deficiency and goldenhar syndrome: a case report.
Frontiers in pediatricsMechanisms and Management of Obstructive Sleep Apnea: A Translational Overview.
Clinical and experimental otorhinolaryngology[Comparison of diagnostic methods and the initial stage of treatment in patients with temporomandibular joint dysfunction].
StomatologiiaCase Report : Bilateral dentigerous cysts in association with developing third molars and premolars in a non-syndromic 13-year-old: a 2-year follow-up.
F1000ResearchCorrigendum: Evaluation of sleep position shifts in patients with obstructive sleep apnea syndrome with the use of a mandibular advancement device.
Frontiers in dental medicineArhgap29 Deficiency Directly Leads to Systemic and Craniofacial Skeletal Abnormalities.
International journal of molecular sciencesComparison of Temporomandibular Disorder Signs and Symptoms in CrossFit® Athletes and Sedentary Individuals.
International journal of environmental research and public healthCongenital Unilateral Syngnathia: A Report of a Rare Case.
CureusManagement of Congenital Macroglossia Due to Lymphatic Malformation in a Child with Review of Literature.
Journal of Indian Association of Pediatric SurgeonsUse of the preepiglottic baton plate for treatment of tongue-based obstruction in newborns with Robin sequence.
Current opinion in otolaryngology & head and neck surgeryOrthodontic-Surgical Approach for Treating Skeletal Class II Malocclusion with Severe Mandibular Hypoplasia in Williams Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationNumb chin syndrome as initial manifestation of multiple myeloma: correlation of clinical and radiographic findings.
Quintessence international (Berlin, Germany : 1985)Obstructive sleep apnea syndrome indexes in patients treated with oral appliances with different vertical dimension: a preliminary study.
Minerva dental and oral scienceEfficacy of Prolotherapy for Temporomandibular Joint Dysfunction: An Interventional Clinical Study.
Medical science monitor : international medical journal of experimental and clinical researchRadiological and Surgery Considerations and Alternatives in Total Temporomandibular Joint Replacement in Gorlin-Goltz Syndrome.
Diagnostics (Basel, Switzerland)Osteosarcoma Arising in Noonan Syndrome/RASopathy Complex: First Case Report.
Head and neck pathologyFacial Diffuse Plexiform Neurofibroma-associated Mandibular Deformities: Surgical Interventions and Monitoring of Treatment Results in a Patient for Over 40 Years.
Cancer diagnosis & prognosisRecurrent Diffuse Neurofibroma of the Mandibular Anterior Lingual Alveolar Process Associated With Dental and Skeletal Changes in Neurofibromatosis Type 1.
Cancer diagnosis & prognosisFour-year follow-up comparison of three pre-surgical infant orthopedic methods on mandibular arch morphology in unilateral cleft lip and palate: A retrospective study.
International orthodonticsOrthognathic Surgery of Goldenhar Syndrome Patient With Absent Bilateral Mental Foramina.
The Journal of craniofacial surgeryA prospective cohort study on effects of mandibular setback with or without maxillary advancement for skeletal class III malocclusion on sleep-related respiratory parameters.
Sleep & breathing = Schlaf & AtmungPatient Selection for Efficacious Mandibular Advancement Device Therapy in Obstructive Sleep Apnea: An Institutional Outcomes Analysis.
The Annals of otology, rhinology, and laryngologyUsing DISE to evaluate tonsillar obstruction in sleep apnea syndrome in adults.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryAssociações
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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.
- Comparison of craniofacial skeletal morphology in pediatric obstructive sleep apnea-hypopnea syndrome patients with class II and class III malocclusions: a retrospective cross-sectional study.
- Cervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.
- Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families.
- Triple-hit diffuse large B-cell lymphoma with choroidal and cavernous sinus involvement mimicking inflammatory and neuro-ophthalmic disease: case report.
- Treatment of Feline Lung-Digit Syndrome with Toceranib Phosphate: Prolonged Survival and Novel Metastatic Findings.
- Subtle Manifestation of Lower Cavernous Sinus Syndrome as the Initial and Sole Presentation of Pterygopalatine Squamous Cell Carcinoma Invasion from the Skull Base: A Case Report.
- LeFort III distraction in patients with syndromic craniosynostosis: Is overcorrection beneficial?
- Can combination syndrome influence functional performance and peri-implant bone remodeling in mandibular overdenture users? Results from a 5-year cohort study.
- Numb chin syndrome as initial manifestation of multiple myeloma: correlation of clinical and radiographic findings.
- The effect of lingual orthodontic appliances in the dimensional reduction of labial gingival recession and root prominence caused by wire syndrome in the anterior mandible: a multicenter study.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:363649(Orphanet)
- OMIM OMIM:615381(OMIM)
- MONDO:0014157(MONDO)
- GARD:10989(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q17120696(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
