Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome

Abeer Al-Fardan; Mohammad M. Al-Qattan

doi:10.1016/j.ijscr.2017.08.022

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Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome

Journal article

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Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome

Abeer Al-Fardan and Mohammad M. Al-Qattan

International journal of surgery case reports, Vol.39, pp.212-217

01/01/2017

DOI: https://doi.org/10.1016/j.ijscr.2017.08.022

PMCID: PMC5575438

PMID: 28854412

Abstract

Cone-shaped epiphyses

Ellis-van Creveld

Saudi Arabia

• EVC syndrome is very rare in the Middle East. • We report on a Saudi family with two affected children. • Gene analysis revealed a homozygous c.2T >A in exon 1 of the EVC gene. • The most interesting finding was the wide-spread cone-shaped epiphyses.

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Title: Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome
Creators - without role: Abeer Al-Fardan - King Saud University
Mohammad M. Al-Qattan - King Saud University
Publication Details: International journal of surgery case reports, Vol.39, pp.212-217
Publisher: Elsevier
Identifiers: 9946681508331
Academic Unit: King Saud University
Language: English
Resource Type: Journal article