Results 41 to 50 of about 1,393 (166)

Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome

Clinical 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, Olivier Lienhard, Dipesh Rao, Jeanne Amiel, Ludovic Benichou, Thomas Bongibault, Ana‐Julia Bravo Hidalgo, Valérie Cormier‐Daire, Stanislas Lyonnet, Arnaud Picard, Marlène Rio, Ahmed Zaiter, Nicolas Garcelon, Tinatin Tkemaladze, Roman H. Khonsari   +14 more
wiley   +1 more source

The management of craniosynostosis in Australia and New Zealand

Australasian 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

Nautilus: craniotomia dinâmica - nova técnica cirúrgica e resultados preliminares

Revista Brasileira de Cirurgia Plástica
INTRODUÇÃO: Considerando-se que as craniossinostoses são afecções basicamente suturais, o fato de o cérebro estar aprisionado em um compartimento fechado, que não possui a complacência necessária para acompanhar seu crescimento, se constitui no desafio ...
Vera Lucia Nocchi Cardim, Alessandra dos Santos Silva, Rolf Lucas Salomons, Rodrigo Faria do Valle Dornelles, Adriano de Lima e Silva, José Orlofe de Souza Blom, Nelci Zanon Colange   +6 more
doaj   +1 more source

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

The 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, Ashley Greenlee, George Abboud, Lexie Brengartner, Eryn Zuiker, Matthew W. Gorr, Loren E. Wold, Purnima S. Kumar, James Cray   +8 more
wiley   +1 more source

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

Birth 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, Abel Sekri, Nathalie Roux, Alexandre Vasiljevic, Laïla El Khattabi, Nicolas Chatron, Sarah Grotto, Delphine Menzella, Gilles Grangé, Florent Thébault, Jérôme Massardier, Cécile Fourrage, Laurence Lohmann, Vassilis Tsatsaris, Audrey Putoux, Lucile Boutaud, Tania Attié‐Bitach   +16 more
wiley   +1 more source

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

Revista 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, Michel Patrick do Amaral Silva, Douglas Neumar Menon, Renato Salazar Somensi, Cesar Augusto Raposo-do-Amaral, Celso Luiz Buzzo   +5 more
doaj   +1 more source

Anatomy and mobility in the adult cadaveric craniocervical junction 

Journal of Morphology, Volume 285, Issue 7, July 2024.
The motivation of the present study was to understand the morphological and functional basis of motion in the adult craniocervical junction, in the hope to find morphological features accessible from medical imaging able to predict mobility. We compared a wide range of mobility variables extracted from an experimental setup, with the shape of the ...
Maxime Taverne, Laura Lalieve, Sylvain Persohn, Roman Hossein Khonsari, Giovanna Paternoster, Syril James, Thomas Blauwblomme, Sandro Benichi, Sébastien Laporte   +8 more
wiley   +1 more source

Craniosynostosis

Indian 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

Prevalence of craniosynostosis in Finland, 1987–2010: A population‐based study

Birth Defects Research, Volume 116, Issue 2, February 2024.
Abstract Background Craniosynostosis is a prevalent craniofacial malformation in Finland; however, comprehensive population‐based epidemiological data are limited. This study aimed to estimate the total and birth prevalence of craniosynostosis in Finland from 1987 to 2010 and examine temporal trends.
Pia Vuola, Niklas Pakkasjärvi, Annukka Ritvanen, Arja Heliövaara, Erkki Tukiainen, Mika Gissler   +5 more
wiley   +1 more source

“Heal the sick”: Health status and caregiving during the 17th–18th century in Northern Italy (St. Biagio cemetery, Ravenna)

American Journal of Biological Anthropology, Volume 183, Issue 1, Page 125-140, January 2024.
Abstract Objective The study of health‐related care provision in archeology gives important indications on the culture and community organization of past populations. This study aims to assess the health status of the skeletal assemblage recovered from the burial site of St. Biagio (Ravenna, 17th–18th Centuries); next, we identified likely instances of
Federica De Luca, Alba Pasini, Filippo Scianò, Nicoletta Zedda, Chiara Guarnieri, Sabrina Masotti, Barbara Bramanti, Emanuela Gualdi‐Russo, Natascia Rinaldo   +8 more
wiley   +1 more source