Results 41 to 50 of about 5,138 (198)

Baja talla por déficit selectivo e idiopático de hormona de crecimiento asociado al Síndrome de Crouzon

Ciencia y Salud, 2017
El Síndrome de Crouzon constituye la craneosinostosis compleja más frecuente y conocida. Se transmite de forma autosómica dominante, con expresión variable, no tiene predilección racial ni de sexo y es infrecuente su asociación con el déficit selectivo ...
Francisco Carvajal Martínez, José María Basain Valdés, Annia Quintana Marrero, Annia Ladrón de Guevara Casals   +3 more
doaj   +1 more source

Mouse genetics identifies unique and overlapping functions of fibroblast growth factor receptors in keratinocytes [PDF]

, 2020
Fibroblast growth factors (FGFs) are key regulators of tissue development, homeostasis and repair, and abnormal FGF signalling is associated with various human diseases.
Ben-Yehuda Greenwald, Maya, Chen, Lin, Iizuka, Haruka, Jukic, Marko, Kubo, Fumimasa, Meyer, Michael, Ornitz, David M, Rauschendorfer, Theresa, Sänger, Catharina, Werner, Sabine   +9 more
core   +2 more sources

Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three‐generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2

Molecular Genetics & Genomic Medicine, 2019
Background Crouzon syndrome is a rare and complex autosomal dominant craniosynostosis syndrome with a prevalence of approximately 1 in 60,000 births.
Meina Lin, Yongping Lu, Yu Sui, Ning Zhao, Ying Jin, Dongxu Yi, Miao Jiang   +6 more
doaj   +1 more source

Bronchial asthma, recurrent croup and bronchiectasis in a child with Crouzon syndrome: clinical observation

Медицинский совет, 2014
Crouzon syndrome (craniofacial dysostosis) is an autosomal dominant disorder, a form of craniosynostosis syndrome; characterized by premature closure of cranial sutures, midfacial hypoplasia, lower mandibular prognathism, marked proptosis and strabismus
D. Y. Ovsyannikov, T. I. Nazarova, M. A. Belyashova, M. I. Livshits, A. V. Gorbunov   +4 more
doaj   +1 more source

Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications. [PDF]

, 2015
Fibroblast growth factors (FGFs) and their receptors (FGFRs) are transmembrane growth factor receptors with wide tissue distribution. FGF/FGFR signaling is involved in neoplastic behavior and also development, differentiation, growth, and survival.
Helsten, Teresa, Kurzrock, Razelle, Schwaederle, Maria   +2 more
core   +2 more sources

The Course and Interaction of Ventriculomegaly and Cerebellar Tonsillar Herniation in Crouzon Syndrome over Time

Plastic and Reconstructive Surgery, Global Open, 2022
Background:. Children with Crouzon syndrome have a higher incidence of cerebellar tonsillar herniation (TH) and ventriculomegaly than the general population, or children with other craniosynostosis syndromes. Objective:.
Priya N. Doerga, MD, Catherine A. de Planque, MD, Nicole S. Erler, Dipl.-Stat, PhD, Marie-Lise C. van Veelen, MD, PhD, Irene M.J. Mathijssen, MD, PhD, MBA-H   +4 more
doaj   +1 more source

Separaxion anxiety in pediatric migraine without aura: A pilot study [PDF]

, 2017
Background: Separation anxiety (SA) can be defined as the fear reaction and protest manifested by children when the main caregivers move away from him/her or in front of unfamiliar person. SA near eight months may be considered as an important and normal
Di Filippo T., Di Folco A., Gabriele Tripi, Maltese A., Parisi L., Romano P., Salerno M.   +6 more
core   +1 more source

PARTICULARITĂŢI CLINICO-EVOLUTIVE ÎNTR-UN CAZ DE SINDROM CROUZON [PDF]

Romanian Journal of Pediatrics, 2016
Sindromul Crouzon este o boală genetică rară, cu o incidenţă între 1/25.000-1/100.000 de nou-născuţi, transmisă autozomal dominant, caracterizată prin craniosinostoză şi dismorfism facial caracteristic, putând fi diagnosticat precoce.
Aniko Maria Manea, Nicoleta Kiriţescu, Mihaela Dobre, Mariana Boia   +3 more
doaj   +1 more source

Intronic Single Nucleotide Polymorphisms in FGFR2 Gene Association With Non‐Syndromic Mandibular Retrognathism

Orthodontics &Craniofacial Research, EarlyView.
ABSTRACT Objective Mandibular retrognathism (MR) is a skeletal malocclusion in which patients have a deficient mandibular length, resulting in a more posterior position of the mandible. We aimed to investigate the association between Single nucleotide polymorphisms (SNPs) in Fibroblast Growth Factor Receptor 2 (FGFR2) gene and MR in germans.
Caio Luiz Bitencourt Reis, Christian Kirschneck, Daniel Hemming, Eva Paddenberg‐Schubert, Peter Proff, Daniela Silva Barroso de Oliveira, Cristiano Miranda de Araujo, Flares Baratto‐Filho, Svenja Beisel‐Memmert, Erika Calvano Küchler   +9 more
wiley   +1 more source

Crouzons syndrome: A case report with review of literature

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2013
Louis Edouard Octave Crouzon, a French neurologist, in 1912, described the hereditary syndrome of craniofacial synostosis in a mother and son. He described the triad as skull deformities, facial anamolies and exopthalmos now known as Crouzon syndrome (CS)
R Tanwar, A R Iyengar, K S Nagesh, B V Subhash   +3 more
doaj   +1 more source