A síndrome de Saethre-Chotzen (SCS) é uma síndrome de craniossinostose hereditária caracterizada por sinostose coronal unilateral ou bilateral, assimetria facial, ptose, estrabismo e orelhas pequenas com crus proeminentes, entre outras manifestações menos comuns.
Introdução
O que você precisa saber de cara
A síndrome de Saethre-Chotzen (SCS) é uma síndrome de craniossinostose hereditária caracterizada por sinostose coronal unilateral ou bilateral, assimetria facial, ptose, estrabismo e orelhas pequenas com crus proeminentes, entre outras manifestações menos comuns.
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
+ 29 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 83 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
3 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction probably involves the basic domains of both proteins. Also represses expression of pro-inflammatory cytokines such as TNFA and IL1B. Regulates cranial suture patterning and fusion. Activates transcription as a heterodimer with E proteins. Regulates gene expression differentially, depending on
Nucleus
Saethre-Chotzen syndrome
A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly.
Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is
Cell membraneGolgi apparatusCytoplasmic vesicleSecreted
Crouzon syndrome
An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism.
Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in chondrocytes, but can also promote cancer cell proliferat
Cell membraneCytoplasmic vesicleEndoplasmic reticulumSecreted
Achondroplasia
A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. ACH is an autosomal dominant disease.
Variantes genéticas (ClinVar)
914 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 367 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
33 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 Saethre-Chotzen
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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
Ensaios em destaque
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Outros ensaios clínicos
39 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Semi-automated three-dimensional analysis of maxillary anomalies in patients with Muenke syndrome, Saethre-Chotzen syndrome or TCF12-related craniosynostosis: A retrospective study.
In craniosynostosis distinctive craniofacial and oral growth patterns are to be expected. This study aims to determine maxillary anomalies in craniosynostosis patients with Muenke syndrome, Saethre-Chotzen syndrome or TCF12-related craniosynostosis, using a three-dimensional semi-automated setup measurement of digital dental casts. Symmetry analysis of the maxilla of craniosynostosis patients was performed with creation of a reference frame, a palatal mesh and a distance map. The outline of the palate was determined by landmarks with the use of a semi-automated technique and software algorithm and compared to healthy controls. All transverse dimensions were smaller in the craniosynostosis group compared to the. control group (p < 0.001; canine premolar right TCF12 p = 0.005). In Muenke syndrome, the palate was higher compared to the control group (left and right; p < 0.001). In Saethre-Chotzen syndrome, the palate was shallower (left p < 0.001; right p = 0.003) and the left palatal surface was smaller compared to the control group (p < 0.001). This retrospective case-control study indicates that Muenke syndrome, Saethre-Chotzen syndrome and TCF12-related craniosynostosis have distinctive maxillary characteristics compared to healthy controls. Muenke syndrome had a higher arched palate. and Saethre-Chotzen had a shallower palate compared to healthy controls. The intersurface distance (ISD) in both syndromes indicated a palatal anomaly.
Prevalence and treatment outcomes of hydrocephalus among children with craniofacial syndromes.
Hydrocephalus is more common in patients with craniofacial syndromes (CS) relative to non-syndromic craniosynostosis, and the optimal management is challenging. This study examined the prevalence and treatment outcomes of hydrocephalus among children with CS. We performed a retrospective review of medical records for all children with established CS and registered in the Gothenburg Craniofacial Registry between 1975 and 2022. This review included analyses of data regarding patient demographics, radiological imaging, hydrocephalus treatment modalities, and shunt revisions. Eligible patients (n = 193) included those with CS, including Pfeiffer (n = 13), Crouzon (n = 57), Apert (n = 49), Muenke (n = 25), and Saethre-Chotzen (n = 49) syndromes. A total of 22 patients (11.4%) presented hydrocephalus requiring treatment [Pfeiffer, n = 8 (61.5%); Crouzon, n = 13 (22.8%); and Apert, n = 1 (2.0%)]. Nineteen (9.8%) patients underwent ventricular shunt insertion, and three (1.6%) underwent endoscopic third ventriculostomy as a first procedure. None of the Muenke or Saethre-Chotzen patients required hydrocephalus treatment. Seventeen (85%) patients with shunts required revision mainly due to shunt obstruction. Pfeiffer patients had the highest risk of both developing hydrocephalus requiring treatment and needing shunt revision (p < 0.001 and p = 0.004, respectively). Approximately 40% of patients with Pfeiffer, Crouzon, or Apert presented ventriculomegaly not requiring treatment. Hydrocephalus requiring treatment is common in Pfeiffer and Crouzon patients but rare in Apert, Muenke, or Saethre-Chotzen syndrome. Shunt treatment is often associated with complications that require revisions, emphasizing the importance of distinguishing non-progressive ventriculomegaly from hydrocephalus requiring treatment.
Prenatal diagnosis of chromothripsis causing complex chromosomal rearrangement involving chromosomes 5, 7 and 11 leading to TWIST1 deletion and Saethre-Chotzen syndrome.
Prenatal detection of complex chromosomal rearrangements (CCR) is extremely rare, but is of great clinical importance, since CCR can be causative of different congenital disorders. We present an exceptionally rare case of prenatally diagnosed Saethre-Chotzen syndrome (SCS) rising as a consequence of chromothripsis involving chromosomes 5, 7 and 11 and deletion of TWIST1 gene. Brachycephaly, hypertelorism, flat face, micrognathia, relative macroglossia and small posterior fossa were noted on ultrasound examination at 28th gestational week. Fetal karyotyping revealed de novo translocation 46,XY,t(7;11)(p15.5;q21)dn. Chromosomal microarray showed presence of three microdeletions on chromosome 7 (7p21.1p15.3 including TWIST1, 7p12.1p11.2 and 7q21.11), and one on chromosome 5p12p11. Use of advanced molecular diagnostic techniques in combination with cytogenetic methods allows for precise characterization of CCRs and detection of molecular mechanisms of their origin. Phenomenon of chromothripsis can be causative of rare genetic syndromes such as SCS.
Targeting of C-ROS-1 Activity Using a Controlled Release Carrier to Treat Craniosynostosis in a Preclinical Model of Saethre-Chotzen Syndrome.
Saethre-Chotzen syndrome (SCS) is one of the most prevalent craniosynostosis, caused by a loss-of-function mutation in the TWIST-1 gene, with current treatment options relying on major invasive transcranial surgery. TWIST-1 haploinsufficient osteogenic progenitor cells exhibit increased osteogenic differentiation potential due to an upregulation of the transmembrane tyrosine kinase receptor, C-ROS-1, a TWIST-1 target gene known to promote bone formation. The present study assessed the efficacy of suppressing C-ROS-1 activity using a known chemical inhibitor to C-ROS-1, crizotinib, to halt premature coronal suture fusion in a preclinical mouse model of SCS. Crizotinib (1 μM, 2 μM, or 4 μM) was administered locally over the calvaria of Twist-1del/+ heterozygous mice prior to coronal suture fusion using either a nonresorbable collagen sponge (quick drug release) or a resorbable sodium carboxymethylcellulose microdisk (slow sustained release). Coronal suture fusion rates and bone parameters were determined by μCT imaging and histomorphometric analysis of calvaria postcoronal suture fusion. Results demonstrated a dose-dependent increase in the efficacy of crizotinib to maintain coronal suture patency, with no adverse effects to brain, kidney, liver, and spleen tissue, or blood cell parameters. Moreover, crizotinib delivered on microdisks resulted in a greater efficacy at a lower concentration to reduce bone formation at the coronal suture sites compared to sponges. However, the bone inhibitory effects were found to be diminished by over time following cessation of treatment. Our findings lay the foundation for the development of a pharmacological nonsurgical, targeted approach to temporarily maintain open coronal sutures in SCS patients. This study could potentially be used to develop similar therapeutic strategies to treat different syndromic craniosynostosis conditions caused by known genetic mutations.
Prediction and design of transcriptional repressor domains with large-scale mutational scans and deep learning.
Regulatory proteins have evolved diverse repressor domains (RDs) to enable precise context-specific repression of transcription. However, our understanding of how sequence variation impacts the functional activity of RDs is limited. To address this gap, we generated a high-throughput mutational scanning dataset measuring the repressor activity of 115,000 variant sequences spanning more than 50 RDs in human cells. We identified thousands of clinical variants with loss or gain of repressor function, including TWIST1 HLH variants associated with Saethre-Chotzen syndrome and MECP2 domain variants associated with Rett syndrome. We also leveraged these data to annotate short linear interacting motifs (SLiMs) that are critical for repression in disordered RDs. Then, we designed a deep learning model called TENet ( T ranscriptional E ffector Net work) that integrates sequence, structure and biochemical representations of sequence variants to accurately predict repressor activity. We systematically tested generalization within and across domains with varying homology using the mutational scanning dataset. Finally, we employed TENet within a directed evolution sequence editing framework to tune the activity of both structured and disordered RDs and experimentally test thousands of designs. Our work highlights critical considerations for future dataset design and model training strategies to improve functional variant prioritization and precision design of synthetic regulatory proteins.
Publicações recentes
Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early-Onset Monogenic Disorders.
Semi-automated three-dimensional analysis of maxillary anomalies in patients with Muenke syndrome, Saethre-Chotzen syndrome or TCF12-related craniosynostosis: A retrospective study.
Targeting of C-ROS-1 Activity Using a Controlled Release Carrier to Treat Craniosynostosis in a Preclinical Model of Saethre-Chotzen Syndrome.
Prevalence and treatment outcomes of hydrocephalus among children with craniofacial syndromes.
📚 EuropePMC135 artigos no totalmostrando 82
Semi-automated three-dimensional analysis of maxillary anomalies in patients with Muenke syndrome, Saethre-Chotzen syndrome or TCF12-related craniosynostosis: A retrospective study.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryTargeting of C-ROS-1 Activity Using a Controlled Release Carrier to Treat Craniosynostosis in a Preclinical Model of Saethre-Chotzen Syndrome.
Journal of tissue engineering and regenerative medicinePrevalence and treatment outcomes of hydrocephalus among children with craniofacial syndromes.
Journal of plastic surgery and hand surgeryPrenatal diagnosis of chromothripsis causing complex chromosomal rearrangement involving chromosomes 5, 7 and 11 leading to TWIST1 deletion and Saethre-Chotzen syndrome.
Taiwanese journal of obstetrics & gynecologyPrediction and design of transcriptional repressor domains with large-scale mutational scans and deep learning.
bioRxiv : the preprint server for biologyGenetic Heterogeneity, Craniofacial Surgical Burden, and Surgical Techniques in Patients With Saethre-Chotzen Syndrome.
The Journal of craniofacial surgerySyndromic Craniosynostosis: A Comprehensive Review.
CureusAutomated three-dimensional analysis of facial asymmetry in patients with syndromic coronal synostosis: A retrospective study.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgerySkull progenitor cell-driven meningeal lymphatic restoration improves neurocognitive functions in craniosynostosis.
Cell stem cellTWIST1 Gene Variants Cause Craniosynostosis with Limb Abnormalities in Asian Patients.
Journal of pediatric geneticsPatient Tailored Surgery in Saethre-Chotzen Syndrome: Analysis of Reoperation for Intracranial Hypertension.
The Journal of craniofacial surgeryA Twist-Box domain of the C. elegans Twist homolog, HLH-8, plays a complex role in transcriptional regulation.
GeneticsCase report: A third variant in the 5' UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome.
Frontiers in geneticsSynchondrosis fusion contributes to the progression of postnatal craniofacial dysmorphology in syndromic craniosynostosis.
Journal of anatomyThe impact of obstructive sleep apnea on growth in patients with syndromic and complex craniosynostosis: a retrospective study.
European journal of pediatricsAuricles Anomalies in Patients With a TCF12 Gene Mutation.
The Journal of craniofacial surgeryTWIST1, a gene associated with Saethre-Chotzen syndrome, regulates extraocular muscle organization in mouse.
Developmental biologyCase Report: Posterolateral Epidural Supra-C2-Root Approach (PESCA) for Biopsy of a Retro-Odontoid Lesions in Same Sitting After Occipitocervical Fixation and Decompression in a Case of Crowned Dens Syndrome With Brainstem Compression and Displacement.
Frontiers in surgeryPostnatal Progressive Craniosynostosis in Syndromic Conditions: Two Patients With Saethre-Chotzen Due to TWIST1 Gene Deletions and Review of the Literature.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationQuantitative Morphologic Analysis of Cranial Vault in Twist1+/- Mice: Implications in Craniosynostosis.
Plastic and reconstructive surgeryCraniofacial morphology and growth in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis.
Clinical oral investigationsEmbryonic requirements for Tcf12 in the development of the mouse coronal suture.
Development (Cambridge, England)Facial Dysmorphology in Saethre-Chotzen Syndrome.
The Journal of craniofacial surgeryDifferential diagnosis of syndromic craniosynostosis: a case series.
Archives of gynecology and obstetricsEvaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis.
European journal of orthodonticsThe developing mouse coronal suture at single-cell resolution.
Nature communicationsSyndrome-related outcomes following posterior vault distraction osteogenesis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery[Saethre-Chotzen syndrome: a case report].
Archivos argentinos de pediatriaIntracranial Volume Measured and Correlated to Cephalic Index in Syndromic and Nonsyndromic Anterior Brachycephaly.
Annals of plastic surgeryInvited Commentary from the authors of: Abulezz TA, et al. Saethre-Chotzen Syndrome: A Report of 7 Patients and Review of the Literature.
Annals of plastic surgeryCranial Suture Regeneration Mitigates Skull and Neurocognitive Defects in Craniosynostosis.
CellEvolution of Cranioorbital Shape in Nonsyndromic, Muenke, and Saethre-Chotzen Bilateral Coronal Synostosis: A Case-Control Study of 2-Year Outcomes.
Plastic and reconstructive surgeryVertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1.
American journal of medical genetics. Part AAdult Saethre-Chotzen Syndrome: A Unique Abnormal Breathing Pattern.
The Journal of craniofacial surgeryPharmacological targeting of KDM6A and KDM6B, as a novel therapeutic strategy for treating craniosynostosis in Saethre-Chotzen syndrome.
Stem cell research & therapyLateral and Frontal Cephalometric Measurements in a Cohort With Saethre-Chotzen Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationCaput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis.
American journal of medical genetics. Part ASaethre-Chotzen syndrome: long-term outcome of a syndrome-specific management protocol.
Developmental medicine and child neurology50 Years Ago in TheJournalofPediatrics: Clinical and Genetic Delineation of Saethre-Chotzen Syndrome.
The Journal of pediatricsSaethre-Chotzen Syndrome: A Report of 7 Patients and Review of the Literature.
Annals of plastic surgeryAn ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription.
Scientific reportsLanguage Development, Hearing Loss, and Intracranial Hypertension in Children With TWIST1-Confirmed Saethre-Chotzen Syndrome.
The Journal of craniofacial surgeryCraniofacial abnormalities in a murine model of Saethre-Chotzen Syndrome.
Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische GesellschaftNonsyndromic craniosynostosis: novel coding variants.
Pediatric researchFrom 3D imaging to 3D printing in dentistry - a practical guide.
International journal of computerized dentistryAblepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution.
American journal of medical genetics. Part ADeviating dental arch morphology in mild coronal craniosynostosis syndromes.
Clinical oral investigationsAltered bone growth dynamics prefigure craniosynostosis in a zebrafish model of Saethre-Chotzen syndrome.
eLifeUnraveling the transcriptional regulation of TWIST1 in limb development.
PLoS geneticsSaethre-Chotzen syndrome: Case report and literature review.
Dental and medical problemsPrenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods.
Congenital anomaliesIntracranial Volume and Head Circumference in Children with Unoperated Syndromic Craniosynostosis.
Plastic and reconstructive surgeryStaged Raising of a Coronal Flap for Fronto-Orbital Advancement and Remodeling in Saethre-Chotzen Syndrome Complicated by Sinus Pericranii.
The Journal of craniofacial surgeryDisruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.
Human mutationInhaled nitric oxide mitigates need for extracorporeal membrane oxygenation in a patient with refractory acute hypoxemic respiratory failure due to cardiac and pulmonary shunts.
Respiratory medicine case reportsRecombinant mouse periostin ameliorates coronal sutures fusion in Twist1+/- mice.
Journal of translational medicineTyrosine kinase receptor c-ros-oncogene 1 inhibition alleviates aberrant bone formation of TWIST-1 haploinsufficient calvarial cells from Saethre-Chotzen syndrome patients.
Journal of cellular physiologyCraniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.
Journal of applied geneticsReduced Intercarotid Artery Distance in Syndromic and Isolated Brachycephaly.
Pediatric neurologyA craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
Genetics in medicine : official journal of the American College of Medical GeneticsSevere persistent pulmonary hypertension of the newborn and dysmorphic features in neonate with a deletion involving TWIST1 and PHF14: a case report.
Journal of medical case reportsDestabilization of the TWIST1/E12 complex dimerization following the R154P point-mutation of TWIST1: an in silico approach.
BMC structural biologyA Surgical Technique for Management of the Metopic Suture in Syndromic Craniosynostosis.
The Journal of craniofacial surgeryLocalized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.
Human molecular geneticsOcular Morbidity in the Correction of Orbital Hypertelorism and Dystopia: A 15-Year Experience.
Plastic and reconstructive surgeryContiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9.
Congenital anomaliesMultiple biological functions of Twist1 in various cancers.
OncotargetA novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome.
Clinical dysmorphologySyndromic Craniosynostosis.
Facial plastic surgery clinics of North America[Repeated General Anesthesia for a Child with Saethre-Chotzen Syndrome].
Masui. The Japanese journal of anesthesiologyPrevention and management of hearing loss in syndromic craniosynostosis: A case series.
International journal of pediatric otorhinolaryngologyGenetic Syndromes Associated with Craniosynostosis.
Journal of Korean Neurosurgical SocietyClinical and genetic characteristics of craniosynostosis in Hungary.
American journal of medical genetics. Part ANew Pattern of Sutural Synostosis Associated With TWIST Gene Mutation and Saethre-Chotzen Syndrome: Peace Sign Synostosis.
The Journal of craniofacial surgeryA twist tale of cancer metastasis and tumor angiogenesis.
Histology and histopathologyProgressive postnatal pansynostosis: an insidious and pernicious form of craniosynostosis.
Journal of neurosurgery. PediatricsThe occipitofrontal circumference: reliable prediction of the intracranial volume in children with syndromic and complex craniosynostosis.
Neurosurgical focusY-craniosynostosis by premature fusion of the metopic and coronal sutures: a new nosological entity or a variety of Saethre-Chotzen syndrome?
Birth defects research. Part A, Clinical and molecular teratologyMorphology of the foramen magnum in syndromic and non-syndromic brachycephaly.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryChild with Saethre-Chotzen syndrome: anesthetic management and literature review.
Acta anaesthesiologica BelgicaVenous hypertension in syndromic and complex craniosynostosis: the abnormal anatomy of the jugular foramen and collaterals.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryA case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome.
Indian journal of dentistryAssociações
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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.
- Semi-automated three-dimensional analysis of maxillary anomalies in patients with Muenke syndrome, Saethre-Chotzen syndrome or TCF12-related craniosynostosis: A retrospective study.Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery· 2025· PMID 40393840mais citado
- Prevalence and treatment outcomes of hydrocephalus among children with craniofacial syndromes.
- Prenatal diagnosis of chromothripsis causing complex chromosomal rearrangement involving chromosomes 5, 7 and 11 leading to TWIST1 deletion and Saethre-Chotzen syndrome.
- Targeting of C-ROS-1 Activity Using a Controlled Release Carrier to Treat Craniosynostosis in a Preclinical Model of Saethre-Chotzen Syndrome.
- Prediction and design of transcriptional repressor domains with large-scale mutational scans and deep learning.
- Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early-Onset Monogenic Disorders.
- Pfeiffer Syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:794(Orphanet)
- OMIM OMIM:101400(OMIM)
- MONDO:0007042(MONDO)
- GARD:7598(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q3508686(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.
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