Results 51 to 60 of about 3,158 (217)

Case 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 Genetics, 2023
Introduction: Saethre-Chotzen syndrome, a craniosynostosis syndrome characterized by the premature closure of the coronal sutures, dysmorphic facial features and limb anomalies, is caused by haploinsufficiency of TWIST1. Although the majority of variants
Francisca Diaz-Gonzalez, Francisca Diaz-Gonzalez, Javier M. Sacedo-Gutiérrez, Javier M. Sacedo-Gutiérrez, Stephen R. F. Twigg, Eduardo Calpena, Fernando E. Carceller-Benito, Fernando E. Carceller-Benito, Manuel Parrón-Pajares, Manuel Parrón-Pajares, Fernando Santos-Simarro, Fernando Santos-Simarro, Fernando Santos-Simarro, Karen E. Heath, Karen E. Heath, Karen E. Heath   +15 more
doaj   +1 more source

Isolated Effects of Bone, Spring and Surgical Parameters on the Surgical Outcome in Spring‐Assisted Sagittal Synostosis Correction

Healthcare Technology Letters, Volume 12, Issue 1, January/December 2025.
ABSTRACT Sagittal synostosis can be corrected using spring‐assisted cranioplasty which, involves removing bony parts from the skull and inserting compressed springs to expand the skull. However, surgical outcomes in spring‐assisted cranioplasty may remain suboptimal due to the interacting effects of skull, and spring parameters and surgical settings ...
Jenson Jacob, Selim Bozkurt
wiley   +1 more source

Crouzon Syndrome-A Case Report

Journal of Indian Academy of Oral Medicine and Radiology
Crouzon syndrome is a hereditary condition with an autosomal dominant pattern, characterized by the premature synostosis of coronal and sagittal sutures.
Malarmathi Eswaramoorthy, G. V. Murali Gopika Manoharan   +1 more
doaj   +1 more source

Kleeblattschädel skull presenting in concert with Pfeiffer syndrome

Egyptian Journal of Neurosurgery, 2019
Background Kleeblattschädel skull, also known as the cloverleaf is a complex synostosis which presents with an enlarged tri-lobar skull resulting temporal bulging and a flat posterior skull, a rare find in the population. This pansynostosis is associated
Mir Ibrahim Sajid, Noor Malik, Samira S. Balouch, Gohar Javed   +3 more
doaj   +1 more source

Frontosphenoidal synostosis: a rare cause of unilateral anterior plagiocephaly [PDF]

, 2018
Introduction: When a child walks in the clinic with a unilateral frontal flattening, it is usually associated in our minds with unilateral coronal synostosis.
Czorny, Alain, de Ribaupierre, Sandrine, Jacques, Bertrand, Pittet, Brigitte, Rilliet, Benedict   +4 more
core  

Regulation of Calvarial Osteogenesis by Concomitant De-repression of GLI3 and Activation of IHH Targets [PDF]

, 2017
Loss-of-function mutations in GLI3 and IHH cause craniosynostois and reduced osteogeneiss, respectively. In this study, we show that ihh ligand, the receptor Ptch1 and Gli transcription factors are differentialyy expressed in embryonic mouse calvaria ...
Hasan, Md. Rakibul, Kesper, Dorthe A., Kobayashi, Yukiho, Mustonen, Tuija, Rice, David P., Takatalo, Maarit, Veistinen, Lotta K., Vortkamp, Andrea   +7 more
core   +1 more source

Brain volume in infants with metopic synostosis: Less white matter volume with an accelerated growth pattern in early life

Journal of Anatomy, Volume 245, Issue 6, Page 894-902, December 2024.
To gain insight into the pathophysiology of metopic synostosis and its association with neurodevelopmental disorders, we studied preoperative brain volumes of non‐syndromic metopic synostosis patients compared to controls using MRI. We found smaller total white matter volume with accelerated white matter growth in metopic synostosis patients, similar ...
L. Gaillard, M. C. Tjaberinga, M. H. G. Dremmen, I. M. J. Mathijssen, H. A. Vrooman   +4 more
wiley   +1 more source

Using Sensitivity Analysis to Develop a Validated Computational Model of Post-operative Calvarial Growth in Sagittal Craniosynostosis

Frontiers in Cell and Developmental Biology, 2021
Craniosynostosis is the premature fusion of one or more sutures across the calvaria, resulting in morphological and health complications that require invasive corrective surgery.
Connor Cross, Roman H. Khonsari, Leila Galiay, Giovanna Patermoster, David Johnson, Yiannis Ventikos, Mehran Moazen   +6 more
doaj   +1 more source

Fibroblast growth factor signaling in skeletal development and disease [PDF]

, 2015
Fibroblast growth factor (FGF) signaling pathways are essential regulators of vertebrate skeletal development. FGF signaling regulates development of the limb bud and formation of the mesenchymal condensation and has key roles in regulating ...
Marie, Pierre J, Ornitz, David M
core   +2 more sources

Distraction Osteogenesis for Frontosphenoidal Craniosynostosis: a Novel Surgical Treatment Modality of a Rare Suture Fusion

Plastic and Reconstructive Surgery, Global Open
Summary:. Frontosphenoidal craniosynostosis (FSC) is a rare premature fusion of the frontosphenoidal suture that results in anterior plagiocephaly. When associated with severe cranial deformity, surgical treatment is beneficial.
Joanna Chen, BA, Mackenzie M. French, MD, Matthew G. B. Holdaway, BS, Tessa M. Jolley, BS, Catherine H. Bautista, BS, Lucia Collar Yagas, MD, Barbu Gociman, MD, PhD   +6 more
doaj   +1 more source