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

Medicine

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