Results 11 to 20 of about 2,319 (218)

Neuroimaging in Nonsyndromic Craniosynostosis: Key Concepts to Unlock Innovation [PDF]

Diagnostics
Craniosynostoses (CRS) are caused by the premature fusion of one or more cranial sutures, with isolated nonsyndromic CRS accounting for most of the clinical manifestations. Such premature suture fusion impacts both skull and brain morphology and involves
Camilla Russo, Ferdinando Aliberti, Ursula Pia Ferrara, Carmela Russo, Domenico Vincenzo De Gennaro, Adriana Cristofano, Anna Nastro, Domenico Cicala, Pietro Spennato, Mario Quarantelli, Marco Aiello, Andrea Soricelli, Giovanni Smaldone, Nicola Onorini, Lucia De Martino, Stefania Picariello, Stefano Parlato, Peppino Mirabelli, Lucia Quaglietta, Eugenio Maria Covelli, Giuseppe Cinalli   +20 more
doaj   +3 more sources

Paediatric skull growth models: a systematic review of the applications to normal skulls and craniosynostoses.

Journal of Stomatology Oral and Maxillofacial Surgery, 2022
INTRODUCTION Craniosynostoses affect 1/2000 births and their incidence is currently increasing. Without surgery, craniosynostosis can lead to neurological issues due to restrained brain growth and social stigma due to abnormal head shapes.
Maya Geoffroy, Pierre-Marc François, R. Khonsari, S. Laporte   +3 more
semanticscholar   +2 more sources

Fgfr3–Wnt signaling crosstalk is involved in maintaining cranial suture integrity [PDF]

Bone Research
Cranial suture formation is a dynamic process that requires precise cellular and molecular coordination to regulate bone growth and maintain suture homeostasis. The Fibroblast Growth Factor Receptor 3 (FGFR3) signaling pathway is among the major pathways
Rachel Pereur, Yvan Marc, Yuliya Lim, Alain Schmitt, Marilyne Malbouyres, Anatole Chessel, Florence Ruggiero, Marie-Claire Schanne-Klein, Laurence Legeai-Mallet, Emilie Dambroise   +9 more
doaj   +3 more sources

Change-of-function fibroblast growth factor receptor 3 mutations causing skeletal dysplasias. [PDF]

J Cell Commun Signal
We show that the ligands FGF1 and FGF2 elicit differential fibroblast growth factor receptor 3 (FGFR3) signaling responses and that the FGFR3 G380R and A391E mutations reshape these signaling outputs. Thus, pathogenic FGFR3 mutations found in skeletal dysplasia do not simply enhance signaling strength and should be reclassified from “gain‐of‐function ...
Roy T, Feketova Z, Liu J, Krejci P, Hristova K.   +4 more
europepmc   +2 more sources

The influence of closed sutures on cranial morphology in Apert and Crouzon syndromes: A quantitative analysis. [PDF]

J Anat
This quantitative study identified distinct cranial vault morphologies in Apert and Crouzon syndromes, with a larger anterior fossa in Apert and high variability in Crouzon, reflecting different patterns of suture closure. Abstract Craniosynostoses are congenital conditions characterized by premature suture fusions, altering skull growth and ...
Delassus O, Ben Bouazza L, Traoré AR, Uguen M, Boddaert N, Germanaud D, Mangin JF, Paternoster G, Taverne M, Khonsari RH.   +9 more
europepmc   +2 more sources

Early Motor Development and Rehabilitation Outcomes in Apert Syndrome: Gross Motor Function Measures—Case Report [PDF]

Pathophysiology
Introduction: Apert syndrome is a rare genetic disorder characterized by craniofacial anomalies and limb malformations, often accompanied by neurodevelopmental abnormalities that can considerably affect motor development.
Lorena Oreščanin, Zrinka Biloglav, Ivana Škrlec   +2 more
doaj   +2 more sources

Nieprawidłowa budowa aparatu mowy oraz opóźniony rozwój mowy u dzieci z izolowanymi postaciami kraniosynostoz [PDF]

Logopedia Silesiana, 2016
Craniosynostosis is a congenial malformation caused by premature fusion of one or more cranial sutures, leading to abnormal shape of the skull. Non-syndromic craniosynostoses can result in developmental disorders, including speech acquisition delay.
Agnieszka Rożek, Dawid Larysz
doaj   +4 more sources

Subjective Assessment of Head and Facial Appearance in Children with Craniosynostoses after Surgical Treatment

Healthcare, 2018
Background: Craniosynostoses are congenital defects in the construction of the skull involving premature fusion of one or more cranial sutures. Premature fusion of sutures causes characteristic skull deformation(s). This affect the structure and thus the
D. Larysz, Elżbieta Nieroba
semanticscholar   +2 more sources

Pictorial essay: The many faces of craniosynostosis

Indian Journal of Radiology and Imaging, 2011
Craniosynostosis is a common condition in the pediatric age group, which may either be isolated or may present as part of a craniofacial syndrome. This pictorial review illustrates the underlying mechanisms and pathophysiology of craniosynostosis, the ...
Paritosh C Khanna, Mahesh M Thapa, Ramesh S Iyer, Shashank S Prasad   +3 more
doaj   +2 more sources

When Virchow's law fails: Crouzon syndrome as a test case for quantitative suture closure-endocranial shape relationships. [PDF]

J Anat
Crouzon syndrome shows preserved intracranial volume but profoundly altered endocranial shape, with disrupted allometric coupling relative to controls. Treating calvarial suture patency as a continuous, age‐adjusted variable reveals strong system‐level covariation with endocranial morphology, effects invisible to conventional categorical suture scoring.
Steup FWR, Groenenboom EV, Delassus O, Balzeau A, Profico A, Paternoster G, Moazen M, Khonsari RH, Van De Lande LS, Taverne M.   +9 more
europepmc   +2 more sources