Results 51 to 60 of about 2,067 (196)

Apert syndrome: the Paris and Rotterdam philosophy [PDF]

, 2017
Introduction: Apert syndrome is a rare type of syndromic craniosynostosis. Patients have an explicit phenotype with craniofacial dysmorphologies and severe symmetrical syndactyly of the hands and feet.
Arnaud, E. (Eric), Bredero-Boelhouwer, H.H. (Hansje), Driessen, C. (Caroline), Joosten, K.F.M. (Koen), Mathijssen, I.M.J. (Irene), Nieuwenhoven, C.A. (Christianne) van, Veelen-Vincent, M.L.C. (Marie-Lise) van, Versnel, S.L. (Sarah), Wolvius, E.B. (Eppo)   +8 more
core   +2 more sources

Dental management of a pediatric patient with progressive familial intrahepatic cholestasis having dental anomalies: a case report and brief review of the literature

BMC Oral Health, 2023
Background Progressive familial intrahepatic cholestasis is a heterogeneous group of disorders, leading to intrahepatic cholestasis, with the possibility of chronic liver failure and biliary cirrhosis.
Mina Yazdizadeh, Maryam Sharifi, Arefeh Torabi Parizi, Firoozeh Alipour, Maryam Ghasempuor, Elham Zanguei, Maryam Yazdizadeh   +6 more
doaj   +1 more source

Computed tomography findings of Crouzon syndrome: A case report

Radiology Case Reports, 2022
Crouzon syndrome is a genetic condition characterized by a premature fusion of skull sutures resulting in head and facial deformities. Crouzon syndrome is usually suspected at birth through physical examination or in the antenatal period via ...
Juan Guillermo Arámbula Neira, MD, Valeria del Castillo Herazo, MD, Nury Tatiana Rincón Cuenca, MD, Angélica M. Sanabria Cano, MD, Maryi Fernanda Bermudez Sarmiento, MD, María F. Castro, MD, Andrés Felipe Herrera Ortiz, MD   +6 more
doaj   +1 more source

DREAMER: Rapid and Simultaneous Multiple Contrast Magnetic Resonance Imaging of Solid and Soft Tissue

Magnetic Resonance in Medicine, Volume 95, Issue 3, Page 1513-1527, March 2026.
ABSTRACT Purpose Pediatric craniofacial imaging may involve examination of both the skull and brain tissues via CT and MRI, respectively. DREAMER (Dual Repetition and Echo Acquisition with Multi‐contrast Encoding and Reconstruction) simultaneously acquires solid‐ and soft‐tissue images, potentially providing a rapid, high‐resolution, and radiation‐free
Brian‐Tinh Duc Vu, Nada Kamona, Felix W. Wehrli, Rajiv S. Deshpande, Hee Kwon Song, Allison Hu, Emily Baccaglini, Scott P. Bartlett, Chamith S. Rajapakse   +8 more
wiley   +1 more source

Mutational patterns in oncogenes and tumour suppressors [PDF]

, 2016
All cancers depend upon mutations in critical genes, which confer a selective advantage to the tumour cell. Knowledge of these mutations is crucial to understanding the biology of cancer initiation and progression, and to the development of targeted ...
Baeissa, Hanadi M, Benstead-Hume, Graeme, Pearl, Frances M G, Richardson, Christopher J   +3 more
core   +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

Dental Age, Agenesis, and Morphology in Patients With Operated Single-Suture Craniosynostoses [PDF]

, 2021
Peer ...
Heliövaara, Arja, Leikola, Junnu, Leinonen, Sami, Rice, David   +3 more
core   +1 more source

Right or wrong? Looking through the retrospectoscope to analyse predictions made a decade ago in prenatal diagnosis and fetal surgery

, 2020
Prenatal Diagnosis, Volume 40, Issue 13, Page 1627-1635, December 2020.
Lyn S. Chitty, Alessandro Ghidini, Jan Deprest, Tim Van Mieghem, Brynn Levy, Lisa Hui, Diana W. Bianchi   +6 more
wiley   +1 more source

De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features [PDF]

, 2013
BACKGROUND: Triplication is a rare chromosomal anomaly. We identified a de novo triplication of 11q12.3 in a patient with developmental delay, distinctive facial features, and others.
Kayoko Saito, Keiko Shimojima, Mari Matsuo, Noriko Sangu, Seijiro Aso, Shino Shimada, Toshiyuki Yamamoto   +6 more
core   +1 more source

The Neural Crest and Craniofacial Malformations [PDF]

, 2023
The neural crest is a temporary embryonic structure that is composed of a population of multipotent cells that delaminate from the ectoderm by epitheliomesenchymal transformation (• Sect. 5.2). These neural-crest-derived cells or neural crest cells (NCC)
Mathijssen, Irene M.J., ten Donkelaar, Hans J., Trainor, Paul, Vermeij-Keers, Christl   +3 more
core   +2 more sources