2025
Non-syndromic craniosynostosis
Alperovich M, Tonello C, Mayes L, Kahle K. Non-syndromic craniosynostosis. Nature Reviews Disease Primers 2025, 11: 24. PMID: 40210850, DOI: 10.1038/s41572-025-00607-4.Peer-Reviewed Original ResearchConceptsNon-syndromic craniosynostosisSurgical techniqueOptimal timing of surgeryHealth-care disparitiesQuality of life outcomesDelayed initial presentationPatient-reported quality of life outcomesCranial suturesTime of surgeryCranial vault remodelingAbnormal head shapeSpring-assisted cranioplastyIncreased intracranial pressurePatient-reported qualitySchool-aged childrenInitial presentationSurgical interventionVault remodelingStrip craniectomyPhysical examinationCompare outcomesSchool-agePremature fusionMesenchymal stem cellsIntracranial pressure
2024
Application of Computerized Surgical Planning in Craniosynostosis Surgery
Parikh N, Aral A, Lewis K, Alperovich M. Application of Computerized Surgical Planning in Craniosynostosis Surgery. Seminars In Plastic Surgery 2024, 38: 214-223. PMID: 39118860, PMCID: PMC11305832, DOI: 10.1055/s-0044-1786803.Peer-Reviewed Original ResearchComputerized surgical planningSurgical planningMultiple cranial suturesComputed tomography scanTreatment of craniosynostosisSurgical guide designPreoperative imagingIntraoperative timeSurgical correctionCraniofacial surgeryCraniosynostosis surgeryTomography scanTreatment modalitiesCraniosynostosis casesIntraoperative implementationPatient managementPremature fusionPreoperative planningMedical trainee educationCraniosynostosisCranial suturesResidency trainingMedical conditionsSurgeryPatient education
2019
Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis
Timberlake AT, Jin SC, Nelson-Williams C, Wu R, Furey CG, Islam B, Haider S, Loring E, Galm A, Steinbacher D, Larysz D, Staffenberg D, Flores R, Rodriguez E, Boggon T, Persing J, Lifton R, Lifton RP, Gunel M, Mane S, Bilguvar K, Gerstein M, Loring E, Nelson-Williams C, Lopez F, Knight J. Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2019, 116: 15116-15121. PMID: 31292255, PMCID: PMC6660739, DOI: 10.1073/pnas.1902041116.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentalpha CateninChildChild, PreschoolCraniosynostosesExomeExome SequencingFemaleGene ExpressionGlypicansHistone AcetyltransferasesHumansMaleMutationNuclear ProteinsPedigreeRisk AssessmentSignal TransductionSkullSOXC Transcription FactorsTranscription Factor AP-2Zinc Finger Protein Gli2ConceptsRare damaging mutationsSyndromic craniosynostosisCongenital anomaliesDamaging mutationsSyndromic casesExome sequencingAdditional congenital anomaliesFrequent congenital anomaliesDamaging de novo mutationsNeural crest cell migrationDamaging de novoCrest cell migrationCS patientsMutation burdenChromatin modifiersSubsequent childrenTranscription factorsDe novo mutationsCS casesCS geneHedgehog pathwayDisease locusPremature fusionFunction mutationsCraniosynostosis
2006
Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis
Eswarakumar VP, Özcan F, Lew ED, Bae JH, Tomé F, Booth CJ, Adams DJ, Lax I, Schlessinger J. Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2006, 103: 18603-18608. PMID: 17132737, PMCID: PMC1693709, DOI: 10.1073/pnas.0609157103.Peer-Reviewed Original ResearchConceptsFGF receptorsDocking protein FRS2alphaCommon craniofacial abnormalitySelective uncouplingPremature fusionSkull developmentFunction mutationsDominant mutationsNormal skull developmentMurine model systemMutationsSevere bone disordersModel systemFGFR2cCraniofacial abnormalitiesCalvaria organ culturesPathwayOrgan cultureFRS2alphaSkull vaultMutantsPharmacological approachesFusionFGFRUncoupling
1994
Sagittal Synostosis
Ocampo R, Persing J. Sagittal Synostosis. Clinics In Plastic Surgery 1994, 21: 563-574. PMID: 7813156, DOI: 10.1016/s0094-1298(20)30724-0.Peer-Reviewed Original Research
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