Results 61 to 70 of about 2,067 (196)

Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome

open access: yesClinical Genetics, Volume 107, Issue 5, Page 495-504, May 2025.
We described typical facial phenotype for frontal, lateral views and external ears for Coffin Siris syndrome (CSS), and classified patients using Next‐Generation Phenotyping methods. We also developed a new approach for generating synthetic faces of patients with CSS and nonsyndromic children for different age groups.
Quentin Hennocq   +14 more
wiley   +1 more source

The management of craniosynostosis in Australia and New Zealand

open access: yesAustralasian Journal of Plastic Surgery, 2019
**Introduction**: The management of syndromic and non-syndromic craniosynostosis is controversial with different units performing various procedures at different points in time and for different reasons.
William A Ziaziaris, Damian D Marucci
doaj   +1 more source

Cephalometric measurements: comparison between analog X-Ray film and digital cephalometric image [PDF]

open access: yes, 2006
This research is focused on the comparison of measurements between analog x-ray film and digital cephalometric image. This study is designed to determine the best measurement method between manually tracing and using computer software.
Chong, Albert K.   +3 more
core  

The Use of Artificial Intelligence for the Classification of Craniofacial Deformities [PDF]

open access: yes, 2023
Positional cranial deformities are a common finding in toddlers, yet differentiation from craniosynostosis can be challenging. The aim of this study was to train convolutional neural networks (CNNs) to classify craniofacial deformities based on 2D images
Bouffleur, Frederic   +9 more
core   +2 more sources

Relationships between cranial base synchondroses and craniofacial development: a review [PDF]

open access: yes, 2010
: Synchondrosis is defined as the development of a union between two bones by the formation of either hyaline cartilage or fibro-cartilage. This paper reviews the relationship between cranial base synchondroses and craniofacial development.
Cendekiawan, T, Rabie, ABM, Wong, RWK
core   +1 more source

Estudo antropométrico das assimetrias craniofaciais na craniossinostose coronal unilateral Anthropometric study of craniofacial asymmetry in unilateral coronal synostosis

open access: yesRevista Brasileira de Cirurgia Plástica, 2011
INTRODUÇÃO: A craniossinostose coronal unilateral (CCU) é a ossificação prematura da sutura coronal unilateralmente e provoca uma deformidade em 3 dimensões, que pode afetar o crânio e as órbitas.
Cassio Eduardo Raposo-do-Amaral   +5 more
doaj   +1 more source

Acute exposure to electronic cigarette components alters mRNA expression of pre‐osteoblasts

open access: yesThe FASEB Journal, Volume 38, Issue 17, September 2024.
Data garnered from our study and inclusive to this manuscript demonstrate a clear synergy between the combination of propylene glycol (PG), vegetable glycerin (VG), and a delivered dose of nicotine. These components are common chemicals found in modern‐day electronic cigarettes.
Shareef M. Dabdoub   +8 more
wiley   +1 more source

Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism

open access: yesBirth Defects Research, Volume 116, Issue 7, July 2024.
Abstract Background Fontaine progeroid syndrome (FPS, OMIM 612289) is a recently identified genetic disorder stemming from pathogenic variants in the SLC25A24 gene, encoding a mitochondrial carrier protein. It encompasses Gorlin–Chaudry–Moss syndrome and Fontaine–Farriaux syndrome, primarily manifesting as craniosynostosis with brachycephaly ...
Emmanuelle Pannier   +16 more
wiley   +1 more source

Diagnóstico y evolución de un paciente con acrocefalosindactilia tipo I o síndrome de Apert

open access: yesRevista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2017
El síndrome de Apert es una afección genética que constituye una rareza médica, dada su escasa frecuencia; se caracteriza por craneosinostosis congénita, sindactilia de las manos y de los pies, anquilosis diversas y sinostosis progresiva de las manos ...
Milvia Castillo Guerrero   +2 more
doaj  

Craniosynostosis

open access: yesIndian Journal of Plastic Surgery, 2013
Craniosynostosis is a premature pathologic fusion of one or more cranial vault sutures that leads to abnormal shape of the skull. The fused sutures lead to restricted growth in some areas and compensatory bossing in other areas.
Ramesh Kumar Sharma
doaj   +1 more source

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