Ellis-van creveld syndrome with facial dysmorphic features in an Egyptian child
Joint Authors
Shawqi, Rabah M.
Sayf al-Din, Nifin S.
Sadiq, Dua I.
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 11, Issue 2 (31 Dec. 2010), pp.181-185, 5 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2010-12-31
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Ellis-van Creveld syndrome (EVC) is a chondroectodermal dysplasia.
The tetrad of cardinal features includes disproportionate dwarfism, bilateral postaxial polydactyl of hands, hidrotic ectodermal dysplasia, and congenital cardiac malformations.
This rare condition is inherited as an autosomal recessive trait with variable expression.
Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative.
We report a patient with the typical features of the syndrome but with facial dysmorphic features (upward slant of eyes, megalocornea and high forehead), for the first time in the literature.
American Psychological Association (APA)
Shawqi, Rabah M.& Sadiq, Dua I.& Sayf al-Din, Nifin S.. 2010. Ellis-van creveld syndrome with facial dysmorphic features in an Egyptian child. The Egyptian Journal of Medical Human Genetics،Vol. 11, no. 2, pp.181-185.
https://search.emarefa.net/detail/BIM-380078
Modern Language Association (MLA)
Shawqi, Rabah M.…[et al.]. Ellis-van creveld syndrome with facial dysmorphic features in an Egyptian child. The Egyptian Journal of Medical Human Genetics Vol. 11, no. 2 (2010), pp.181-185.
https://search.emarefa.net/detail/BIM-380078
American Medical Association (AMA)
Shawqi, Rabah M.& Sadiq, Dua I.& Sayf al-Din, Nifin S.. Ellis-van creveld syndrome with facial dysmorphic features in an Egyptian child. The Egyptian Journal of Medical Human Genetics. 2010. Vol. 11, no. 2, pp.181-185.
https://search.emarefa.net/detail/BIM-380078
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 184-185
Record ID
BIM-380078