JBCGenetics |

Case Report

Volume: 6 | Issue: 2 | Published: May 09, 2023 | Pages: 149 - 152 | DOI: 10.24911/JBCGenetics/183-1675543817

A case of Ellis-van Creveld syndrome in Palestine

Authors: Lila H. Abu-Hilal , Balqees M. Mohamad , Bashar K.A. Douden , Mohammad Adwan , Rayan Salahaldin , Sajeda S. Subuh

Article Info

Authors

Lila H. Abu-Hilal

Faculty of Medicine, Al-Quds University, Jerusalem, Palestine

Balqees M. Mohamad

Faculty of Medicine, Al-Quds University, Jerusalem, Palestine

Bashar K.A. Douden

Faculty of Medicine, Al-Quds University, Jerusalem, Palestine

Mohammad Adwan

Faculty of Medicine, Al-Quds University, Jerusalem, Palestine

Rayan Salahaldin

Faculty of Medicine, Al-Quds University, Jerusalem, Palestine

Sajeda S. Subuh

Faculty of Medicine, Mutah University, Amman, Jordan

Publication History

Received: February 04, 2023

Revised: March 08, 2023

Accepted: April 12, 2023

Published: May 09, 2023

Abstract

Background: Ellis-van Creveld syndrome (EVC) causes chondral and ectodermal abnormalities. Although the precise prevalence is still unknown, the Amish group in the United States most frequently reports this uncommon sickness. Case presentation: The reported case was of a 2-year-old female patient presented with dysmorphic facial and digital features, polydactyly, dwarfism, inability to walk normally, and multiple cardiac abnormalities. On examination, the patient's growth parameters were below the 5th percentile, with a weight of 10 kg, height of 72 cm, and head circumference of 45 cm (10th percentile). The patient had sparse, thin hair with bi-temporal narrowing and frontal bossing. The patient was advised to undergo surgery, which included AV canal repair, atrial septal defect closure, VSD closure, Mitral and tricuspid valve cleft closure, and left SVC tunneling to the right atrium. One week after the operation, the patient developed sudden bilateral visual impairment, with no hemorrhage or space-occupying lesions. The patient was discharged on day 15 after surgery, and although stable, the visual impairment remained. Conclusion: This case is believed to be one of the first cases in Palestine, as this disease is very rare worldwide. The outcomes of the condition are thought to be well predicted by prenatal discoveries.

Keywords: Ellis-Van Creveld, chondroectodermal dysplasia, Palestine

Pubmed Style

Lila H. Abu-Hilal, Balqees M. Mohamad, Bashar K.A. Douden, Mohammad Adwan, Rayan Salahaldin, Sajeda S. Subuh. A case of Ellis-van Creveld syndrome in Palestine. JBC Genetics. 2023; 09 (May 2023): 149-152. doi:10.24911/JBCGenetics/183-1675543817

Web Style

Lila H. Abu-Hilal, Balqees M. Mohamad, Bashar K.A. Douden, Mohammad Adwan, Rayan Salahaldin, Sajeda S. Subuh. A case of Ellis-van Creveld syndrome in Palestine. https://www.jbcgenetics.com/index.php/articles/2097 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1675543817

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Lila H. Abu-Hilal, Balqees M. Mohamad, Bashar K.A. Douden, Mohammad Adwan, Rayan Salahaldin, Sajeda S. Subuh. A case of Ellis-van Creveld syndrome in Palestine. JBC Genetics. (2023), [cited April 27, 2025]; 09 (May 2023): 149-152. doi:10.24911/JBCGenetics/183-1675543817

Harvard Style

Lila H. Abu-Hilal, Balqees M. Mohamad, Bashar K.A. Douden, Mohammad Adwan, Rayan Salahaldin, Sajeda S. Subuh (2023) A case of Ellis-van Creveld syndrome in Palestine. JBC Genetics, 09 (May 2023): 149-152. doi:10.24911/JBCGenetics/183-1675543817

Chicago Style

Lila H. Abu-Hilal, Balqees M. Mohamad, Bashar K.A. Douden, Mohammad Adwan, Rayan Salahaldin, Sajeda S. Subuh. "A case of Ellis-van Creveld syndrome in Palestine." 09 (2023), 149-152. doi:10.24911/JBCGenetics/183-1675543817

MLA (The Modern Language Association) Style

Lila H. Abu-Hilal, Balqees M. Mohamad, Bashar K.A. Douden, Mohammad Adwan, Rayan Salahaldin, Sajeda S. Subuh. "A case of Ellis-van Creveld syndrome in Palestine." 09.May 2023 (2023), 149-152. Print. doi:10.24911/JBCGenetics/183-1675543817

APA (American Psychological Association) Style

Lila H. Abu-Hilal, Balqees M. Mohamad, Bashar K.A. Douden, Mohammad Adwan, Rayan Salahaldin, Sajeda S. Subuh (2023) A case of Ellis-van Creveld syndrome in Palestine. , 09 (May 2023), 149-152. doi:10.24911/JBCGenetics/183-1675543817