Cargando…

Oral manifestations of ellis-van creveld syndrome. A rare case report

Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia is an autosomal recessive disorder, characterized by dwarfism, polydactyly, hypoplastic fingernails and congenital heart defects, finding in most of the cases orofacial anomalies. We describe a clinical case of a 9 year old male patient...

Descripción completa

Detalles Bibliográficos
Autores principales:	Peña-Cardelles, Juan-Francisco, Domínguez-Medina, David A., Cano-Durán, Jorge A., Ortega-Concepción, Daniel, Cebrián, José-Luis
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medicina Oral S.L. 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6461737/ https://www.ncbi.nlm.nih.gov/pubmed/31001402 http://dx.doi.org/10.4317/jced.55543

Ejemplares similares

Oral manifestations of Ellis-van Creveld syndrome
por: Kalaskar, Ritesh, et al.
Publicado: (2012)

Ellis–van Creveld
por: Jayaraj, Dhandabani, et al.
Publicado: (2012)

Ellis-Van Creveld syndrome
por: Baujat, Geneviève, et al.
Publicado: (2007)

Ellis-van Creveld syndrome: A rare clinical entity
por: Kamal, Reet, et al.
Publicado: (2013)

Ellis–Van Creveld syndrome in siblings: A rare case report
por: Gokulraj, Sabitha, et al.
Publicado: (2016)

Growth charts for children with Ellis–van Creveld syndrome
por: Verbeek, Sabine, et al.
Publicado: (2010)

Ellis-van Creveld Syndrome: A Case Report
por: Singh, Subash, et al.
Publicado: (2012)

Ellis–van Creveld syndrome with unusual oral and dental findings: A rare clinical entity
por: Shaik, Sameeulla, et al.
Publicado: (2016)

Ellis-van Creveld Syndrome: A Rare Clinical Report of Oral Rehabilitation by Interdisciplinary Approach
por: Naqash, Talib Amin, et al.
Publicado: (2018)

Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families
por: Valencia, Maria, et al.
Publicado: (2015)

Prenatal Diagnosis of Ellis–van Creveld Syndrome by Targeted Sequencing
por: Hao, Xiao-Yan, et al.
Publicado: (2016)

Marked Hypoplasia of the Distal Phalanges in Ellis–Van Creveld Syndrome
por: Marcelis, Stijn, et al.
Publicado: (2018)

Ellis Van Creveld Syndrome: Cardiac Anomalies and Anesthetic Implications
por: Guha, Amrita, et al.
Publicado: (2023)

Exotropia in a case of Ellis Van Creveld syndrome: A rare case report
por: Nayak, Swatishree, et al.
Publicado: (2022)

Ellis Van Creveld Syndrome with Synpolydactyly, an Antenatal Diagnosis with Postnatal Correlation
por: Kundaragi, Nischal G, et al.
Publicado: (2011)

Ellis-van Creveld syndrome in an Indian child: a case report
por: Veena, K.M., et al.
Publicado: (2011)

Ellis van Creveld syndrome with unusual association of essential infantile esotropia
por: Das, D., et al.
Publicado: (2010)

Ellis-van Creveld with an Unusual Dental Anomaly: A Case Report
por: Nethan, Suzanne Tanya, et al.
Publicado: (2017)

Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates
por: Ali, Bassam R, et al.
Publicado: (2010)

Molecular mechanisms of Ellis-van Creveld gene variations in ventricular septal defect
por: Liu, Fadi, et al.
Publicado: (2018)

Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome
por: Ajmi, Houda, et al.
Publicado: (2015)

An operative approach to address severe genu valgum deformity in the Ellis-van Creveld syndrome
por: Weiner, Dennis S., et al.
Publicado: (2014)

Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis
por: Shetty, Devi C., et al.
Publicado: (2012)

Novel large deletion involving EVC and EVC2 in Ellis–van Creveld syndrome
por: Sato, Hiroki, et al.
Publicado: (2022)

A homozygous EVC mutation in a prenatal fetus with Ellis–van Creveld syndrome
por: Wang, Jie, et al.
Publicado: (2023)

Ellis-Van Creveld Syndrome: A Rare Case Report of an Indian Child With Rare Cardiac Anomalies and Normal Intelligence
por: Ghosh, Benumadhab, et al.
Publicado: (2022)

Epigenetic deregulation of Ellis Van Creveld confers robust Hedgehog signaling in adult T-cell leukemia
por: Takahashi, Ryutaro, et al.
Publicado: (2014)

Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome
por: Al-Fardan, Abeer, et al.
Publicado: (2017)

A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2
por: Ohashi, Ikuko, et al.
Publicado: (2019)

First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld Syndrome
por: Piazza, Isabelle, et al.
Publicado: (2022)

Identification of a novel EVC variant in a Han‐Chinese family with Ellis‐van Creveld syndrome
por: Huang, Xiangjun, et al.
Publicado: (2019)

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene
por: Ulucan, Hakan, et al.
Publicado: (2008)

Successful Two-step Correction for Severe Genu Valgum in Ellis-van Creveld Syndrome: A Case Report
por: Kamada, Tomomi, et al.
Publicado: (2017)

Ellis–van Creveld Syndrome in Iran, a Case Report and Review of Disease Cases in Iran, Middle East
por: Baghianimoghadam, Behnam, et al.
Publicado: (2021)

Ellis‐van Creveld syndrome novel pathogenic variant in the EVC2 gene a patient from Turkey
por: Öztürk, Özden, et al.
Publicado: (2021)

Molecular and Cellular Pathogenesis of Ellis-van Creveld Syndrome: Lessons from Targeted and Natural Mutations in Animal Models
por: Louie, Ke’ale W., et al.
Publicado: (2020)

Repair of double orifice mitral valve with an atrioventricular septal defect in a girl with Ellis–Van Creveld syndrome
por: Al‐Dairy, Alwaleed, et al.
Publicado: (2022)

Identification of Compound Heterozygous EVC2 Gene Variants in Two Mexican Families with Ellis–van Creveld Syndrome
por: Negrete-Torres, Nancy, et al.
Publicado: (2023)

Surgical Outcome of Complex Knee Deformity Correction in a Girl With Ellis-van Creveld Syndrome: A Report of a Rare Case
por: Harkare, Vismay V, et al.
Publicado: (2023)

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis‐van Creveld syndrome
por: Zhuang, Jianlong, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_injggok3qhlif53ui3m5n73ca9