Results 41 to 50 of about 24,851 (250)

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

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

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

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay [PDF]

, 2012
Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (OMIM #109400) is a well‐described rare autosomal dominant condition due to haploinsufficiency of PTCH1 .
Boonen, Cajaiba, Chen, de Ravel, Derwinska, Evans, Farrell, Fujii, Hahn, Haniffa, Kent, Kimonis, Kroes, L'Hermine, Lei, Midro, Musani, Nowakowska, Olivieri, Paoloni-Giacobino, Redon, Robb, Sekhon, Shimkets, Shimojima, Slater, Slavotinek, Wicking, Wilkinson, Yamamoto, Ying   +30 more
core   +1 more source

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

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

Apparently synonymous substitutions in FGFR2 affect 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.
Fenwick, A.L. (Aimée), Goos, J.A.C. (Jacqueline), Hoogeboom, A.J.M. (Jeannette), Lester, K.J. (Kathryn), Lord, H. (Helen), Mathijssen, I.M.J. (Irene), Ouweland, A.M.W. (Ans) van den, Rankin, J. (Julia), Wall, S.A. (Steven), Wilkie, A.O.M. (Andrew)   +9 more
core   +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

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source