Fenda palatina – baixa estatura – anomalias vertebrais é uma síndrome de anomalias congênitas múltiplas descrita em pai e filho, caracterizada pela associação de fenda palatina, fácies peculiar (aparência assimétrica, pregas epicânticas internas, nariz curto, narinas antevertidas, orelhas baixas e voltadas para trás, lábio superior fino e micrognatismo), baixa estatura, pescoço curto, anomalias vertebrais e deficiência intelectual. Presume-se que a transmissão seja autossômica dominante. Não houve mais descrições na literatura desde 1993.
Introdução
O que você precisa saber de cara
Fenda palatina – baixa estatura – anomalias vertebrais é uma síndrome de anomalias congênitas múltiplas descrita em pai e filho, caracterizada pela associação de fenda palatina, fácies peculiar (aparência assimétrica, pregas epicânticas internas, nariz curto, narinas antevertidas, orelhas baixas e voltadas para trás, lábio superior fino e micrognatismo), baixa estatura, pescoço curto, anomalias vertebrais e deficiência intelectual. Presume-se que a transmissão seja autossômica dominante. Não houve mais descrições na literatura desde 1993.
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
+ 2 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 11 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 fenda palatina-baixa estatura-anomalias vertebrais
Centros de Referência SUS
24 centros habilitados pelo SUS para Síndrome de fenda palatina-baixa estatura-anomalias vertebrais
Centros para Síndrome de fenda palatina-baixa estatura-anomalias vertebrais
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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.
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.
Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.
Stickler syndrome (SS) is clinically and genetically heterogeneous. Autosomal recessive Stickler syndrome (ARSS) is characterized by sensorineural hearing loss, myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. It may also include midfacial hypoplasia, cleft palate, and skeletal manifestations. Currently, only 40 ARSS cases have been described, and just 4 are linked to pathogenic variants in the LOXL3 gene. A 20-year-old woman was referred to Medical Genetics due to Pierre Robin sequence, myopia, hearing loss, and distinct features. She was evaluated in early childhood with her sisters but was discharged without a specific genetic diagnosis. Polyhydramnios was detected in prenatal ultrasounds. Delivery occurred at 35 weeks. At birth, Pierre Robin sequence was evident, and she was admitted due to apnea. Complementary tests included karyotype, FISH 22q11, and screening for associated anomalies (cardiology, ophthalmology, ABR, and abdominal and cranial ultrasounds), all of which were normal. She had delayed speech development. She presents high myopia and bilateral conductive hearing loss, as well as nonspecific joint pain. She has two sisters with overlapping phenotypes. Both had cleft palate repair (one also with Pierre Robin sequence) and high-degree myopia. The first had a ventricular septal defect that spontaneously closed at age 5, and the second has conductive hearing loss. The physical examination highlights: microcephaly (head circumference < p1, -2.5 SD), downward-slanting palpebral fissures, midfacial and nasal ala hypoplasia, flat nasal bridge, elongated and flat philtrum, high-arched palate, absent uvula, joint hypermobility, shortening of third-fifth metacarpals and metatarsals, wide feet, and bilateral hallux valgus. Targeted sequencing of SS-associated genes revealed a likely pathogenic variant c.1735C>T and a variant of uncertain significance c.956G>A in the LOXL3 gene. Affected sisters carry both variants; both parents are healthy carriers. We report three new cases of SS due to previously undescribed biallelic variants in the LOXL3 gene. The clinical features are similar to those observed in other SS patients; however, digital anomalies and microcephaly have not been previously reported in patients with LOXL3 variants, thus expanding the phenotypic spectrum. This case highlights the importance of re-evaluating patients in light of ongoing advances in genetic diagnostics.
Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.
Otopalatodigital spectrum disorders (OPDSD), comprising otopalatodigital syndromes types 1 and 2 (OPD1, OPD2) and frontometaphyseal dysplasia (FMD), are rare X-linked disorders caused by FLNA gene variants, with phenotypes ranging from mild skeletal anomalies to severe multisystem malformations. We describe two unrelated cases: a 14-year-old male (P1, FMD) and an aborted fetus (P2, OPD2). Whole-exome sequencing identified hemizygous maternally inherited FLNA gene variants in P1 (c.733G>A; p.Glu245Lys) and P2 (c.3707G>A; p.Gly1236Asp, novel), expanding the OPD2 mutational spectrum (NM_001110556). P1 presented with facial dysmorphism, dental anomalies, flattened thumbs, and dermatoglyphic changes; P2 showed facial dysmorphism, skeletal and cardiac malformations, and omphalocele. These cases underscore the breadth of OPDSD phenotypic variability and add novel genetic data. Dental management demands multidisciplinary care from infancy through adolescence, including cleft repair, orthodontics for micrognathia and facial aesthetics, and treatment of dental anomalies. Early recognition, molecular diagnosis, and coordinated management are critical for improving outcomes in these complex disorders.
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Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgerySpinal dysraphism in newborns: Screening factors for prioritizing rapid spinal ultrasonography from a retrospective cohort study.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieDistinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios.
American journal of human geneticsThree New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.
Clinical geneticsPresurgical Nasal Molding in a Bilateral Cleft Lip and Palate Patient with Patau Syndrome Using a Novel Bhatia's Hook: A Case Report.
International journal of clinical pediatric dentistryVACTERL Association and Unilateral Lambdoid Craniosynostosis.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationA Barrier to Understanding Teratogenicity: The Critical Periods of Sensitivity for Most Structural Birth Defects Precede the Established Hemochorial Placenta.
Birth defects researchExploring prenatal risk factors associated with congenital anomalies among newborns in national referral hospital, Indonesia.
The Medical journal of MalaysiaSurgical management of ectrodactyly-associated foot deformity in a child: a case report.
Journal of medical case reportsRare features in Feingold syndrome type 1.
European journal of medical geneticsAre There Morphophysiological Airway Alterations in Syndromic Craniosynostosis? A 3D Computed Tomography and CFD Analysis.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationFeasibility of High-Resolution Oximeter Plus Actigraphy Combined with a Cloud-Based Algorithm for the Detection of Obstructive Sleep Apnea in Children with Craniofacial Anomalies.
Sleep science (Sao Paulo, Brazil)Impact of Tympanostomy Tube Placement on Hearing Outcomes in Children With Cleft Palate-Related Otitis Media: Retrospective Analysis of a Primary Single-Stage Cleft Palate Repair Cohort.
Ear, nose, & throat journalWNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models.
Developmental biologyCraniofacial Microsomia With Tongue Cleft: Embryological Mechanisms and Clinical Implications From Three Rare Cases.
The Journal of craniofacial surgeryCausal Links Between Psychiatric Disorders, Sleep Apnea, and Oral and Maxillofacial Diseases Modules: A Mendelian Randomization Study.
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 epidemiologyNevoid Basal Cell Carcinoma Syndrome Associated With Cleft Lip and Palate: A Case Report and Literature Review.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationSimultaneous 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 AssociationCustomized 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 JHuman-like malformations in anole lizards: Potential cases of "hopeful monsters" resembling chameleon morphology.
Journal of anatomyA Case of CHARGE Syndrome with a Novel Intronic Variant in the CHD7 Gene.
Journal of clinical research in pediatric endocrinologySupport Needs of Parents of Children With Congenital Anomalies Across Europe: A EUROlinkCAT Survey.
Child: care, health and developmentRare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.
American journal of human geneticsChallenges in diagnosing diaphragmatic eventration in a neonate with Fryns syndrome and cleft palate.
Radiology case reportsCognitive and Behavioral Characteristics of Children with Robin Sequence Associated with Stickler Syndrome: A Case Series.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationPhenotype 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.
GenesThe Cumulative Burden of Comorbidities on Complications Following Mandibular Distraction Osteogenesis in Robin Sequence.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association[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 surgerySingle-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 diseasesNew 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 AA 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.
CureusMissense Variant Met119Val in ACTB in a Patient with Baraitser-Winter Syndrome Type 1 and Mild Intellectual Disability.
Molecular syndromology[Clinical phenotype and genotypic analysis of a four-generation Chinese pedigree affected with Stickler syndrome and a literature review].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsPrenatal 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 geneticsFacial 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.
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.
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 otorhinolaryngologyPerinatal Airway Risk for Individuals With Isolated Cleft Spectrum.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationMultimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationCri 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 reportsNavigation-Guided Cochlear Implantation in Complex Congenital Ear Anomalies: Pierre Robin Syndrome With External Aural Atresia and Middle Ear Agenesis.
The Journal of craniofacial surgeryLower labial vermilion myomucosal flap for commissuroplasty of Tessier 7 transverse facial cleft.
International journal of pediatric otorhinolaryngologyQuestionnaire 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 diseasesRole of MSX1 in the development of non-syndromic clefts in the sub-Himalayan region of India.
The British journal of oral & maxillofacial surgeryNovel 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 SurgeonsAge-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.
GenesFirst-Trimester Morphological Evaluation of Fetuses and Medical Law Implications.
Diagnostics (Basel, Switzerland)Taurus 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 DentistryRHOA-associated disorder can be non-mosaic.
European journal of medical geneticsUnveiling the Phenotypic Spectrum of Miller Syndrome: A Systematic Review.
The Journal of craniofacial surgeryMidline 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 & gynecologyAn Unprecedented Complication in Pharyngeal Flap Surgery: Cerebrospinal Fluid Leakage.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationLoss 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 geneticsA systematic review of congenital external ear anomalies and their associated factors.
Frontiers in pediatricsStreamlined Preoperative Evaluation of Velopharyngeal Dysfunction: A Single-Session Protocol for Speech MRI and Carotid MRA.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationExploring surgical outcomes in endoscopic repair of type 1 laryngeal clefts (LC-1) and deep interarytenoid notches (DIN).
American journal of otolaryngologyOccurrence of Malformations of the Upper Extremity in Tibial Hemimelia: Correlation with the Jones Classification.
Indian journal of orthopaedics22q11.2 deletion syndrome in children with palatal anomaly: who and when to test?
Singapore medical journalWorth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome.
American journal of medical genetics. Part ACoronal Clival Cleft in CHARGE Syndrome: Fetal MRI Series.
AJNR. American journal of neuroradiologyA Novel Advantage to Microtia Reconstruction Utilizing Ear Molding: A Case Report of Goldenhar Syndrome's Clinical Presentation and Surgical Reconstruction.
CureusInsight into Apert Syndrome: Reporting on Six Patients and Increasing Awareness.
Molecular neurobiologyPrevalence of upper cervical vertebral anomalies in children with non-syndromic cleft lip and/or palate in comparison with children without cleft in Iranian population.
BMC oral healthA non-syndromic orofacial cleft risk locus links tRNA splicing defects to neural crest cell pathologies.
American journal of human geneticsEvaluation of Gastrointestinal Anomalies in Patients with Cleft Lip and Palate.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationBi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.
Genome medicineUnrecognized constellation of multiple congenital anomalies in a newborn: a rare case report.
Annals of medicine and surgery (2012)Evaluation of common COL2A1 gene variants in Iranian patients suspected with Stickler syndrome type I.
Journal of research in medical sciences : the official journal of Isfahan University of Medical SciencesMicrospherophakia with an atypical temporal iris coloboma in a young female.
BMJ case reportsHeterozygous deletion of 10q24.31-q24.33- a new syndrome associated with multiple congenital anomalies: case report and literature review.
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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.
- 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.
- Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.
- Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.
- Clinical characteristics, genomic profiling, treatments, and outcomes of Langerhans cell sarcoma.
- Methodological challenges in Dutch HTA of non-oncological orphan drugs: a retrospective analysis and price comparison using different pricing models.
- Personalized sirolimus regimen for vascular malformations: a retrospective analysis of VASE cohort.
- Determination of carriers of deafness-infertility syndrome in Peru.
- Clinical characteristics, genetic spectrum and therapeutic effects of 51 male patients with idiopathic hypogonadotropic hypogonadism from southern China.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2015(Orphanet)
- MONDO:0016065(MONDO)
- GARD:1392(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55785908(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
