A ligação entre problemas nas orelhas e lábio leporino (com ou sem fenda palatina) foi observada em dois irmãos. Um dos irmãos tinha furinhos atrás da orelha, miopia grave, nistagmo e problemas na pigmentação da retina. O segundo irmão era um feto de 23 semanas de gestação, que apresentava lábio leporino grave, fenda palatina e alterações nas orelhas externas.
Introdução
O que você precisa saber de cara
A ligação entre problemas nas orelhas e lábio leporino (com ou sem fenda palatina) foi observada em dois irmãos. Um dos irmãos tinha furinhos atrás da orelha, miopia grave, nistagmo e problemas na pigmentação da retina. O segundo irmão era um feto de 23 semanas de gestação, que apresentava lábio leporino grave, fenda palatina e alterações nas orelhas externas.
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 22 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 anomalias auriculares-fenda labial com/sem fenda palatina-anomalias oculares
Centros de Referência SUS
24 centros habilitados pelo SUS para Síndrome de anomalias auriculares-fenda labial com/sem fenda palatina-anomalias oculares
Centros para Síndrome de anomalias auriculares-fenda labial com/sem fenda palatina-anomalias oculares
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
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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
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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.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
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Publicações mais relevantes
Anaesthetic management of a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty.
Goldenhar syndrome is a rare congenital condition characterised by craniofacial deformities and vertebral anomalies, which pose significant challenges for anaesthesiologists in airway management and ventilatory support. In this case report, we present a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty, highlighting the importance of a thorough preoperative evaluation, airway planning and the application of lung protective ventilation strategies. The procedure was successfully done under general anaesthesia without intraoperative or postoperative complications. This case report emphasises the importance of individualised anaesthetic planning in patients with craniofacial and vertebral anomalies. The perioperative risks were significantly reduced by anticipating a potential difficult airway and tailoring ventilatory management.
Toward Understanding the Role of miRNAs in Cleft Palate Only: Observations from Patient Tissues and In Vitro Assays.
Cleft palate only (CPO) is a multifactorial craniofacial malformation with significant genetic and epigenetic contributions. Among these, microRNAs (miRNAs) have emerged as key regulators of palate development, although their alterations in CPO remain incompletely characterized. In this study, we performed a comprehensive miRNA expression analysis on palatal tissues from an Italian cohort of non-syndromic CPO patients, compared with a human embryonic palatal mesenchymal (HEPM) cell line. Using the NanoString® nCounter® platform for miRNA profiling, we identified significant deregulation of several miRNAs, notably the upregulation of miR-205-5p and miR-200c-3p and the downregulation of miR-125a-5p in CPO tissues. Based on these expression changes, a functional analysis was carried out to identify potential target genes. Validation in primary cell cultures derived from patient tissues confirmed these expression patterns. Functional analyses and target predictions implicated PAX9, a key transcription factor essential for palatogenesis, as a probable target of miR-205-5p, while miR-125a-5p was associated with the regulation of PRTG and PRSS35-genes involved in neural crest cell biology and extracellular matrix remodeling, respectively. Although modulation of certain predicted targets of miR-200c-3p was observed, in vitro inhibition experiments did not show significant changes in gene expression, highlighting the complexity of miRNA regulatory networks and the need for further studies to unravel these interactions. These findings identify miRNA alterations associated with CPO tissue and fibroblasts, highlighting novel candidate pathways for further mechanistic and therapeutic investigation.
Orofacial clefting in PHF6-related Börjeson-Forssman-Lehmann syndrome.
Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked neurodevelopmental disorder caused by pathogenic variants in the plant homeodomain finger protein 6 (PHF6) gene. Core features include developmental delay, intellectual disability, dysmorphic craniofacial characteristics, obesity, hypogonadism and digital anomalies. Orofacial clefting has not been recognised as part of the canonical phenotype and is rarely reported in association with BFLS. One cohort study listed cleft lip and/or palate as an uncommon feature without individual case details, and a separate report described a female with a nonsense PHF6 variant and clefting of the hard and soft palate. Here, we describe a BFLS female with a de novo missense PHF6 variant who presented with cleft palate. This case adds to the emerging evidence that clefting, though uncommon, may be a recurrent manifestation. It supports the inclusion of PHF6 in the genetic testing of patients presenting with syndromic orofacial clefting when accompanied by neurodevelopmental delay or dysmorphism.
Clinical and genetic characterization of patients with Digeorge syndrome: a single-center, first report from Sudan.
DiGeorge syndrome (DGS; OMIM #188400), also known as 22q11.2 deletion syndrome, is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and hypocalcemia. The syndrome is ranked as the second most common chromosomal change after Down’s syndrome, accounting for 1 in 2000 newborns. DGS syndrome is typically diagnosed through CGH and/or FISH analysis in developed countries. However, in low-resource healthcare settings, diagnosis often relies primarily on clinical manifestations due to limited access to genetic testing. The present study, the first of its kind, seeks to deepen the understanding of both the clinical and genetic aspects of DGS among Sudanese patients by employing FISH analysis as a confirmatory test. Between 2020 and 2023, 19 patients with DGS as a provisional diagnosis were referred to the Elite Center for Genetic Services for genetic testing and counseling. Cytogenetics and chromosomal analysis were performed following standard protocols, complemented by chromosomal FISH analysis using locus-specific TUPLE1 and α-satellite DNA probes. Of the 19 patients, 9 (47.4%) were male, and 10 (52.6%) were female, with ages ranging from 2 months to 3 years, and a mean of 11 ± 8.6 months. The most common presentations were CHD in 13 (68.4%), dysmorphic features in 12 (63.2%), and recurrent respiratory tract infections in 9 (47.4%). The least common presenting complaint was intellectual disability in only 2 (10.5%) patients. The echocardiogram revealed isolated heart defects in 9 (47.4%) patients, and only 4 (21.1%) had combined cardiac anomalies. Laboratory tests showed hypocalcemia in all four neonatal patients (21.1%) with a previous history of neonatal convulsions. Conventional cytogenetic analyses were suggestive but non-conclusive {46,XY,?del(22) and 46,XX,?del(22)} for DGS. The complementary FISH analysis confirmed the diagnosis by detecting the microdeletion in the DGCR of chromosome 22. Our study highlights the late presentation of DGS for genetic diagnoses. This may be due to limited access to genetic testing, late referrals from treating physicians, or the high cost of the tests. A key area for future research is the environmental factors, such as skin bleaching, that may contribute to DGS in Sudan and other African populations.
Is 7p14.1 an orofacial cleft risk locus? Genome-wide study of copy number variation in multiple populations provides both a replication of previous studies and an alternative explanation.
Our understanding of the genetic causes of non-syndromic orofacial clefts (OFCs) is based largely upon genetic studies of common and rare nucleotide variants. Less is known about the role of copy number variations (CNVs) and the studies published to date have been limited to either small samples or targeted genomic regions. The objective of our study is to investigate the contribution of CNVs spread across the entire genome to OFC risk in a large multi-ancestry cohort. We utilized PennCNV on microarray genotyping data to detect CNVs in 10,240 participants (2,484 with clefts, 7,756 unaffected). 70,695 quality-filtered autosomal CNVs (49,660 deletions, 21,035 duplications) were used to assign normal/abnormal copy number statuses at 67,199 positions from the GRCh37 genome assembly. Genome-wide association was run between cleft status and copy number status. We observed a highly significant association between OFCs and deletions on chromosome 7p14.1 (p=1.32e-35) driven by Central and South American ancestry (p=1.04e-25) participants, with less significant contributions from European (p=3.37e-08) and Asian (p=0.01) ancestry participants. We also observed four other loci with p-values below 10e-04. The 7p14.1 association observed in our study is a replication of two prior studies in independent cohorts of European ancestry. However, this locus lies in a T-cell receptor region that is subject to somatic rearrangements that decrease in frequency with age and may affect genetic association results. Our data show age effects as well as differences between blood and saliva samples. Thus, our results can be interpreted either as supporting a previously established association with orofacial clefts, or as questioning those previous results in favor of a hypothesis about the behavior of somatic rearrangements in T-cell receptor regions.
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Developmental biologyCraniofacial Microsomia With Tongue Cleft: Embryological Mechanisms and Clinical Implications From Three Rare Cases.
The Journal of craniofacial surgeryComparative Evaluation of Z-Plasty and Linear Closure in Ankyloglossia Patients: A Randomized Study of Effects on Speech Articulation and Airway Volume.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsPalate-first versus lip-first surgical repair sequence in unilateral cleft lip, alveolus, and palate: A retrospective cephalometric comparison of maxillary growth at 5-year follow-up.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryTrends in orofacial cleft prevalence and the effect of prenatal detection on pregnancy outcomes in Northern Netherlands.
Annals of epidemiologyType of Primary Surgery and Postoperative Velopharyngeal Function in Patients With Submucous Cleft Palate at 3 years and Older.
The Journal of craniofacial surgeryA Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split-Hand/Foot Malformation 4: A Pedigree Report and Literature Review.
Molecular genetics & genomic medicineCustomized 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 JA Clinical Study of 2253 Cases of Primary and Secondary Defects Associated With Non-Syndromic Orofacial Clefts in Somalia: The First Report of Charity Operation by the Bela Risu Foundation in Somalia.
Congenital anomaliesCancer Risk and Genetic Associations in Individuals With Cleft Lip and Palate and Their Families: A Narrative Review.
Birth defects researchHuman-like malformations in anole lizards: Potential cases of "hopeful monsters" resembling chameleon morphology.
Journal of anatomySupport Needs of Parents of Children With Congenital Anomalies Across Europe: A EUROlinkCAT Survey.
Child: care, health and developmentDoes Pterygoid Hamulotomy During Palatoplasty Affect Hearing Outcomes in Nonsyndromic Cleft Palate Patients?
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons[Advances in animal models and multi-omics technologies for cleft palate research].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology[Association analysis of methylation-related genes TET1 and NSD1 with non-syndromic orofacial clefts].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyRare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.
American journal of human geneticsCleft lip and palate are associated with a higher prevalence of molar-incisor hypomineralisation: a cross-sectional study with a comparison group.
European archives of paediatric dentistry : official journal of the European Academy of Paediatric DentistryGene-by-Environment Interactions Involving Maternal Exposures with Orofacial Cleft Risk in Filipinos.
GenesPhenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.
Clinical geneticsAssociation of VAX1, MAFB, WNT3 with Non-Syndromic Cleft Lip with or without Cleft Palate in a Japanese Population.
GenesGene-Sex Interaction in Non-Syndromic Orofacial Cleft Subtypes: A Case-Control Study Among the Vietnamese Population.
GenesEvaluation of dental and skeletal age among unilateral cleft lip and palate patients in an eastern Indian population.
The Journal of forensic odonto-stomatologyBeyond the face: multidimensional care challenges and unmet needs in Hemifacial Microsomia families.
Frontiers in public health[Novel PAX1 mutation identified in autosomal dominant otofaciocervical syndrome 2 with new phenotypes].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgeryApplication of four-section approach for prenatal diagnosis of Pierre robin sequence.
Journal of medical ultrasonics (2001)Single-cell transcriptomics reveal oxidative phosphorylation and oxidative stress in the superior temporal plane of non-syndromic cleft lip and palate fetuses.
Life sciencesA rare case of unilateral parotid gland agenesis.
Radiology case reportsManagement of Middle Third Hypoplasia Using Rigid External Device: Long-Term Analysis of Results and Report of Complications.
The Journal of craniofacial surgeryCase Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism.
American journal of medical genetics. Part AA critical review of the prevalence of cleft lip and cleft palate in Arab countries.
Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassitEmerging role of alternative splicing in oral and maxillofacial development.
Differentiation; research in biological diversityManagement of Congenital Palatal Fistula Associated With Wiskott-Aldrich Syndrome.
CureusGenetic testing for oral clefts: reflections based on a single Brazilian public genetics service.
Orphanet journal of rare diseasesAirway Management in Children Undergoing Cleft Lip or Cleft Palate Surgery: An 8-Year Retrospective Analysis of 274 Cases.
Paediatric anaesthesiaAll-trans Retinoic Acid regulates cellular senescence of mouse embryonic palatal mesenchyme (MEPM) cells in developing cleft palates.
Reproductive toxicology (Elmsford, N.Y.)Comparison of secondary surgery before and after centralisation of cleft services in the UK: a whole-island cross-sectional analysis.
BMJ openNew patients with duplication of the pituitary gland-plus syndrome, including a PTCH2 variant and a literature review.
Journal of medical geneticsPrenatal Diagnosis of Hartsfield Syndrome in the Fetus With Isolated Ectrodactyly Caused by a Novel Variant in FGFR1.
American journal of medical genetics. Part AMAX-Related Disorder: Expanding the Phenotype of the Recurrent p.Arg60Gln Variant.
American journal of medical genetics. Part AAlveolar cleft repair: A 30-year follow-up.
Journal of plastic, reconstructive & aesthetic surgery : JPRASA synonymous single nucleotide variant on the FAM20C gene causes non-lethal Raine syndrome.
Human molecular geneticsMultidisciplinary Airway Management and Postoperative Planning in a Pediatric Patient With Unrepaired Treacher-Collins Syndrome: A Case Report.
CureusEffects of Maxillary Protraction Techniques on Maxillofacial, Dental, and Soft Tissue Outcomes in Patients With Non-Syndromic Unilateral Cleft Lip and Palate: A Systematic Review and Meta-Analysis.
Orthodontics & craniofacial researchPrenatal genetic findings using karyotyping and chromosomal microarray analysis in the first-occurrence typical orofacial clefts.
Molecular biology reportsUltrasound combined with molecular genetics to diagnose hereditary Renpenning syndrome in early pregnancy: a case report.
Frontiers in geneticsEMG1 cooperates with GRHL3 in β-catenin-mediated surface ectoderm differentiation to regulate neural tube closure.
Development (Cambridge, England)Epidemiologic Assessment and Quality of Life Impact of Sinonasal Disease in Cleft Lip and Palate.
The LaryngoscopeAssessment of symmetry and parental satisfaction after use of customized nasal conformers in unilateral cleft lip repair: a randomized controlled clinical trial.
Head & face medicineGenetic modulation of lncPSMB1 confers non-syndromic cleft lip with or without cleft palate susceptibility by promoting cell apoptosis.
Communications biologyComplex strabismus in a patient with KBG syndrome with 16q24.3 microdeletion.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusHealth Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report.
PediatricsSilver-Russell syndrome: phenotype features and oral health status.
Orphanet journal of rare diseasesBalancing intervention and complications: management of otitis media with effusion in children with cleft palate.
The Turkish journal of pediatricsPrenatal Phenotype in a Neonate with Prader-Willi Syndrome and Literature Review.
Diagnostics (Basel, Switzerland)Enhanced Sutural Protraction: An Innovative Orthopedic Protocol for Midfacial Advancement in Growing Patients.
The Journal of craniofacial surgeryFistulograms for the management of recurrent and atypical congenital neck anomalies.
International journal of pediatric otorhinolaryngologyFunctional Annotation of De Novo Variants Found Near GWAS Loci Associated With Cleft Lip With or Without Cleft Palate.
Birth defects researchMultimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationLong-Term Impact of Tricuspid Valve Intervention on Survival, Tricuspid Valve, and Ventricular Function in Hypoplastic Left Heart Syndrome.
The Annals of thoracic surgeryA Single Institution Comparison of Speech Outcomes Following Palatoplasty in Stickler Syndrome.
Annals of plastic surgeryThe human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.
Nature communicationsCri du Chat Syndrome and congenital dislocation of the hips and knees: case report.
Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina)Type 1 laryngeal clefts - Which patients can be managed medically? A retrospective cohort study.
International journal of pediatric otorhinolaryngologyClarifying the Relationship Between Orbito-Zygomatic and Mandibular Dysmorphology in Treacher Collins Syndrome.
The Journal of craniofacial surgerySpecial considerations for international weight standards for cleft surgery: presurgical optimisation in a patient with femoral-facial syndrome.
BMJ case reportsLower labial vermilion myomucosal flap for commissuroplasty of Tessier 7 transverse facial cleft.
International journal of pediatric otorhinolaryngologyDe Novo Missense Variant in Bovine WDR33 Associated With a Complex Syndromic Form of Cleft Palate With Pentalogy of Fallot and Internal Hydrocephalus.
Journal of veterinary internal medicineQuestionnaire survey of patient families and dental school students regarding non-syndromic cleft lip and/or palate in the Federal Democratic Republic of Ethiopia.
Congenital anomaliesDiagnosis of 22q11.2 Deletion Syndrome is not Independently Associated with Complications Following Speech Surgery: A National Surgical Quality Improvement Program Pediatric Study.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationAnkyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome-Linked p63 Mutations Disrupt Keratinocyte Proliferation and Survival Through Oxidative Stress and Impaired Slc7a11 Expression.
International journal of molecular sciencesModeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome.
European journal of human genetics : EJHGOral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort.
Orphanet journal of rare diseasesExome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Descriptive epidemiology of orofacial clefts in South Australia.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryRole of MSX1 in the development of non-syndromic clefts in the sub-Himalayan region of India.
The British journal of oral & maxillofacial surgerySpeech Outcome Following Autologous Fat Grafting in Soft Palate for Velopharyngeal Insufficiency.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationNovel susceptibility gene SLC23A2 functions via PI3K-AKT-mTOR pathway in etiology of non-syndromic cleft palate.
Journal of human geneticsAutografts, Bone Substitutes, and Combined Approaches for Secondary Alveolar Bone Grafting: A Systematic Review and Meta-Analysis.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsManagement and Outcomes of Postoperative Airway Obstruction in Patients After Tissue-Augmentation Palatoplasty.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryAddressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly.
American journal of medical genetics. Part AAge-Related Dysphagia Among Children with 22q11.2-Deletion Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationLoxl3 Affects Palatal Shelf Elevation by Regulating Cell Proliferation and Collagen Deposition.
International journal of molecular sciencesArhgap29 Deficiency Directly Leads to Systemic and Craniofacial Skeletal Abnormalities.
International journal of molecular sciencesIntrafamilial Phenotypic Variability of the FGFR1 p.Cys277Tyr Variant: A Case Report and Review of the Literature.
GenesTaurus Philtrum: A Newly Identified Phenomenon in Overfilled Syndrome.
Aesthetic plastic surgeryCraniofacial Manifestation and Oral Health Care Needs in Pediatric Population With Fetal Alcohol Syndrome: A Systematic Review.
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 DentistrySpeech Outcomes After Secondary Furlow Z-Plasty and Pharyngeal Flap Procedure.
The Journal of craniofacial surgeryRHOA-associated disorder can be non-mosaic.
European journal of medical geneticsCraniopharyngioma, Rathke Cleft Cyst, and Empty Sella Natural History and Endocrine Outcome in Pediatric Age: A Single Tertiary Center Experience over the 2000-2024 Period.
NeuroendocrinologyUnveiling the Phenotypic Spectrum of Miller Syndrome: A Systematic Review.
The Journal of craniofacial surgeryMultidisciplinary approach to airway management in Pierre Robin sequence: beyond tracheostomy.
International journal of pediatric otorhinolaryngologyA new option of reconstruction after extensive chest wall resection.
Clinics (Sao Paulo, Brazil)Midline defect with corpus callosum agenesis, vermian hypoplasia and median cleft lip palate.
Case reports in perinatal medicinePrenatal diagnosis and counseling of Emanuel syndrome: Two case reports.
Taiwanese journal of obstetrics & gynecologyLoss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.
American journal of human geneticsThe Functional Impact of the Noncoding SNP rs3741442 on Orofacial Clefting.
Journal of dental research[Advances in the study of signaling pathways in Global developmental delay /Intellectual disability combined with congenital craniofacial malformation].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsExploring surgical outcomes in endoscopic repair of type 1 laryngeal clefts (LC-1) and deep interarytenoid notches (DIN).
American journal of otolaryngologyAssociações
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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.
- Anaesthetic management of a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty.
- Toward Understanding the Role of miRNAs in Cleft Palate Only: Observations from Patient Tissues and In Vitro Assays.
- Orofacial clefting in PHF6-related Börjeson-Forssman-Lehmann syndrome.
- Clinical and genetic characterization of patients with Digeorge syndrome: a single-center, first report from Sudan.
- Is 7p14.1 an orofacial cleft risk locus? Genome-wide study of copy number variation in multiple populations provides both a replication of previous studies and an alternative explanation.
- A Review of Artificial Intelligence in Craniofacial Surgery: Clinical Applications Beyond 3D Printing.
- Prenatal diagnosis of Blepharo-Cheilo-Dontic syndrome: a case report.
- Microsurgical Reconstruction of the Columella With a First Web Space Free Flap: A Case Report and Review of Techniques.
- BACH1 is stabilized by vitamin E and attenuates the formation of hypertrophic scar through the Wnt/β-catenin pathway.
- Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:77300(Orphanet)
- MONDO:0019178(MONDO)
- GARD:18933(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55788517(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
