Cargando…

Ellis–van Creveld Syndrome in Iran, a Case Report and Review of Disease Cases in Iran, Middle East

INTRODUCTION: Chondroectodermal dysplasia (Ellis–van Creveld syndrome (EVC)) (OMIM: #225500) is a rare skeletal dysplasia with unknown exact prevalence. EVC patients may have abnormal skeletal and extra skeletal symptoms. We report a case of EVC patient and review previous cases reported in Iran. MA...

Descripción completa

Detalles Bibliográficos
Autores principales:	Baghianimoghadam, Behnam, Arabzadeh, Aidin, Fallah, Yousef
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Vilnius University Press 2021
Materias:	Case Studies
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958661/ https://www.ncbi.nlm.nih.gov/pubmed/35474936 http://dx.doi.org/10.15388/Amed.2021.28.2.11

Ejemplares similares

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

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

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

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

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

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)

Oral manifestations of ellis-van creveld syndrome. A rare case report
por: Peña-Cardelles, Juan-Francisco, et al.
Publicado: (2019)

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

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

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

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)

First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld Syndrome
por: Piazza, Isabelle, 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 with unusual association of essential infantile esotropia
por: Das, D., et al.
Publicado: (2010)

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

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

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

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

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)

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

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

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)

Dominant omodysplasia—A sporadic case—A new case report and review of the literature
por: Arabzadeh, Aidin, et al.
Publicado: (2022)

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

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)

Ellis-van Creveld Syndrome 2 With Novel Partial Exon 11 Deletion: A Case From Saudi Arabia
por: Alessa, Nouf, et al.
Publicado: (2021)

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

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)

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

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)

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)

Cannot write session to /tmp/vufind_sessions/sess_clgclikqjeabr6as6pjs1b3sg8