Results 1 to 10 of about 24,729 (265)

Apparently synonymous substitutions in FGFR2affect splicing and result in mild Crouzon syndrome [PDF]

, 2014
BACKGROUND: Mutations of fibroblast growth factor receptor 2 (FGFR2) account for a higher proportion of genetic cases of craniosynostosis than any other gene, and are associated with a wide spectrum of severity of clinical problems.
A Jeannette M Hoogeboom, Aimee L Fenwick, Andrew OM Wilkie, Ans MW van den Ouweland, Helen Lord, Irene MJ Mathijssen, Jacqueline AC Goos, Julia Rankin, Steven A Wall, Tracy Lester   +9 more
core   +5 more sources

Predictive Value of Sonographic Parameters on the Effects of Cranial Molding Helmet Therapy in Infants with Positional Plagiocephaly

Diagnostics
Positional plagiocephaly is a deformational cranial flattening frequently treated in pediatric neurosurgical practice. Positional maneuvers and orthotic helmet therapy are preferred therapeutic options for moderate-to-severe forms.
Maria Licci, Agnes Paasche, Alexandru Szathmari, Pierre-Aurélien Beuriat, Carmine Mottolese, Raphael Guzman, Federico Di Rocco   +6 more
doaj   +1 more source

Fronto-orbital advancement: Revisited

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2015
Introduction: Craniosynostosis is a pathologic condition resulting from the premature fusion of cranial vault sutures, resulting in craniofacial deformities.
Derick Mendonca, Somashekar Gejje, Nitin Kaladagi   +2 more
doaj   +1 more source

How does nonsyndromic craniosynostosis affect on bone width of nasal cavity in children? - Computed tomography study. [PDF]

PLoS ONE, 2018
Craniosynostosis is caused by premature fusion of one or more cranial sutures, restricting skull, brain and face growth. Nonsyndromic craniosynostosis could disturb the proportions of face.
Katarzyna Gruszczyńska, Wirginia Likus, Magdalena Onyszczuk, Rita Wawruszczak, Kamila Gołdyn, Zbigniew Olczak, Magdalena Machnikowska-Sokołowska, Marek Mandera, Jan Baron   +8 more
doaj   +1 more source

Impact of data synthesis strategies for the classification of craniosynostosis

Frontiers in Medical Technology, 2023
IntroductionPhotogrammetric surface scans provide a radiation-free option to assess and classify craniosynostosis. Due to the low prevalence of craniosynostosis and high patient restrictions, clinical data are rare.
Matthias Schaufelberger, Reinald Peter Kühle, Andreas Wachter, Frederic Weichel, Niclas Hagen, Friedemann Ringwald, Urs Eisenmann, Jürgen Hoffmann, Michael Engel, Christian Freudlsperger, Werner Nahm   +10 more
doaj   +1 more source

Pharmacological exposures may precipitate craniosynostosis through targeted stem cell depletion

Stem Cell Research, 2019
The Centers for Disease Control and Prevention, National Birth Defects Study suggests that environmental exposures including maternal thyroid diseases, maternal nicotine use, and use of selective serotonin reuptake inhibitors (SSRIs) may exacerbate ...
Emily Durham, R. Nicole Howie, Nicholas Larson, Amanda LaRue, James Cray   +4 more
doaj   +1 more source

Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis

Case Reports in Genetics, 2022
Craniosynostosis, the premature fusion of the calvarial bones, has numerous etiologies. Among them, several involve mutations in genes related to the TGFb signaling pathway, a critical molecular mediator of human development.
Jonas Gustafson, Maria Bjork, Conny M. A. van Ravenswaaij-Arts, Michael L. Cunningham   +3 more
doaj   +1 more source

Shprintzen-goldberg craniosynostosis: craniofacial and oral characteristics, diagnosis, and clinical management of a very rare syndrome

RGO: Revista Gaúcha de Odontologia, 2022
Shprintzen-Goldberg craniosynostosis syndrome, characterized by craniosynostosis and marfanoid habitus, is a very rare entity described in 75 individuals worldwide.
Danielle Monsores VIEIRA, Florense Gabriela SILVA, Michele Baffi DINIZ, Maria Cristina Duarte FERREIRA, Maria Teresa Botti Rodrigues dos SANTOS, Renata Oliveira GUARÉ   +5 more
doaj   +1 more source

The earliest evidence of true lambdoid craniosynostosis: the case of “Benjamina”, a Homo heidelbergensis child [PDF]

, 2010
Background The authors report the morphological and neuroimaging findings of an immature human fossil (Cranium 14) diagnosed with left lambdoid synostosis. Discussion The skull was recovered at the Sima de los Huesos site in Atapuerca (Burgos, Spain).
Arsuaga, Juan Luis, Gracia Téllez, Ana, Lorenzo Merino, Carlos, Martínez Lage, Juan F., Martínez Mendizábal, Ignacio, Pérez Espejo, Miguel Ángel   +5 more
core   +2 more sources

Viral delivery of tissue nonspecific alkaline phosphatase diminishes craniosynostosis in one of two FGFR2C342Y/+ mouse models of Crouzon syndrome.

PLoS ONE, 2020
Craniosynostosis is the premature fusion of cranial bones. The goal of this study was to determine if delivery of recombinant tissue nonspecific alkaline phosphatase (TNAP) could prevent or diminish the severity of craniosynostosis in a C57BL/6 ...
Hwa Kyung Nam, Iva Vesela, Sara Dean Schutte, Nan E Hatch   +3 more
doaj   +1 more source