Baraitser-winter syndrome : an additional Arab patient
Joint Authors
Abu Hunaydi, Maha M.
Abu al-Hasan, Sawsan J.
Muarrafi, Makkiyah J.
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 11, Issue 2 (31 Dec. 2010), pp.187-191, 5 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2010-12-31
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Topics
Abstract EN
An Arab child is presented herein with a phenotype that fits the rare Baraitser-Winter syndrome.
Her clinical features included a unilateral iris coloboma, ptosis, hypertelorism, epicanthic folds, broad nasal bridge, full cheeks, pointed chin, low set abnormal ears and short neck.
In addition, she had cardiac defect, previously undescribed brain anomaly, seizures, hypotonia and developmental delay.
Chromosomal analysis of the peripheral lymphocytes and FISH study revealed a normal 46, XX karyotype.
To date, Baraitser–Winter syndrome has only been reported in 19 patients of different ethnic families.
The present case adds a new finding to the spectrum of malformations published before.
American Psychological Association (APA)
Abu Hunaydi, Maha M.& Muarrafi, Makkiyah J.& Abu al-Hasan, Sawsan J.. 2010. Baraitser-winter syndrome : an additional Arab patient. The Egyptian Journal of Medical Human Genetics،Vol. 11, no. 2, pp.187-191.
https://search.emarefa.net/detail/BIM-380074
Modern Language Association (MLA)
Abu Hunaydi, Maha M.…[et al.]. Baraitser-winter syndrome : an additional Arab patient. The Egyptian Journal of Medical Human Genetics Vol. 11, no. 2 (2010), pp.187-191.
https://search.emarefa.net/detail/BIM-380074
American Medical Association (AMA)
Abu Hunaydi, Maha M.& Muarrafi, Makkiyah J.& Abu al-Hasan, Sawsan J.. Baraitser-winter syndrome : an additional Arab patient. The Egyptian Journal of Medical Human Genetics. 2010. Vol. 11, no. 2, pp.187-191.
https://search.emarefa.net/detail/BIM-380074
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 190-191
Record ID
BIM-380074