Results 21 to 30 of about 2,247 (229)
Journal of Developmental Biology, 2020 Craniofacial anomalies are among the most common of birth defects. The pathogenesis of craniofacial anomalies frequently involves defects in the migration, proliferation, and fate of neural crest cells destined for the craniofacial skeleton.
Erica M. Siismets, Nan E. Hatch
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Efficacy of endoscopic strip craniectomy for sagittal synostosis
Chinese Journal of Contemporary Neurology and Neurosurgery, 2023 Objective To explore the clinical effect of endoscopic strip craniectomy with orthotic skull helmet for sagittal synostosis. Methods A total of 20 children with sagittal synostosis admitted to Shanghai Children's Hospital from June 2019 to June 2022 were
WEI Min +5 more
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Baller-Gerold Syndrome in a Premature Infant with a Mutation in the RECQL4 Gene [PDF]
Neonatal Medicine, 2019 Baller-Gerold syndrome is a rare autosomal recessive disorder characterized by premature fusion of the cranial sutures and malformation of the upper limb extremities at birth.
Ji Sook Kim
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Twenty Year review for Craniofacial Distraction in syndromic craniosynostosis
Archives of Pediatric Neurosurgery, 2023 Introduction: Craniosynostosis are cranial deformities resulting from the early closure of one or more sutures. Concomitant facial changes usually result from the involvement of multiple sutures, which may lead to restriction of cranial growth and brain ...
Ricardo Santos de Oliveira +3 more
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Occlusal characteristics and oral health-related quality of life in adults operated due to sagittal synostosis in childhood: a case-control study with 26 years of follow-up. [PDF]
Childs Nerv Syst, 2023 Purpose: The aim of this case–control study was to investigate occlusal characteristics, received orthodontic treatment, oral health-related quality of life (OHRQoL), and satisfaction with dental esthetics in adults operated due to sagittal synostosis ...
Julku J +5 more
europepmc +3 more sources
Morphometry and morphology of rostral cranial fossa in brachycephalic dogs - CT studies.
PLoS ONE, 2020 Hydrocephalus occurs more often in brachycephalic individuals of different species. Detailed analysis of rostral cranial fossa-region of cerebrospinal fluid outflow-is necessary to understand causes leading to hydrocephalus in specimens with shortened ...
Wojciech Sokołowski +6 more
doaj +2 more sources
Surgical Technique in Pediatric Craniofacial Surgery
Archives of Pediatric Neurosurgery, 2022 The surgical correction of non-syndromic and syndromic craniosynostoses (CS) presents several challenges mainly related to the complexity of skull reconstruction, along with the risk of blood loss.
Leopoldo Mandic Ferreira Furtado +4 more
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Evaluation of Low-Dose 3D Skull CT Images in Craniosynostosis [PDF]
Iranian Journal of Medical Physics, 2022 Introduction: Computed Tomography (CT) is nowadays used widely to differentiate normal brain cranium sutures from abnormal ones in pediatric patients with the aim of early treatment.
Fariba Zarei +4 more
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Nosology of genetic skeletal disorders: 2023 revision
American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023 Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Sheila Unger +20 more
wiley +1 more source
De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome
Case Reports in Genetics, Volume 2022, Issue 1, 2022., 2022 Pfeiffer syndrome (PS) is an autosomal dominant disorder with three subtypes stemming from heterozygous mutations in the fibroblast growth factors FGFR1 and FGFR2. The subtypes overlap with heterogeneous clinical manifestations and variable prognosis dependent on neurological and respiratory compromise that impact short‐ and long‐term outcomes and ...
Rafat Mosalli +5 more
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