Baraitser–winter syndrome : an additional Egyptian patient with skeletal anomalies, bilateral iris and choroid colobomas, retinal hypoplasia and hypoplastic scrotum
Joint Authors
Shawqi, Rabah M.
Muhammad, Shayma Abd al-Sattar
Jamal, Radwah
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 17, Issue 1 (31 Jan. 2016), pp.119-123, 5 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2016-01-31
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Topics
Abstract EN
We report a 3.5 year old male child, second in order of birth of non consanguineous Egyptian parents with Baraitser–Winter syndrome (BRWS).
The patient had bilateral colobomas of the iris and choroid.
Our patient had also retinal hypoplasia, which was not reported previously in this syndrome, bilateral congenital ptosis, hypertelorism, moderate mental retardation, short stature, short neck, hyperextensibility of the joints of the hands, talipes equinovarus, kyphoscoliosis and unilateral hypoplastic scrotum and testis.
American Psychological Association (APA)
Shawqi, Rabah M.& Jamal, Radwah& Muhammad, Shayma Abd al-Sattar. 2016. Baraitser–winter syndrome : an additional Egyptian patient with skeletal anomalies, bilateral iris and choroid colobomas, retinal hypoplasia and hypoplastic scrotum. The Egyptian Journal of Medical Human Genetics،Vol. 17, no. 1, pp.119-123.
https://search.emarefa.net/detail/BIM-655028
Modern Language Association (MLA)
Shawqi, Rabah M.…[et al.]. Baraitser–winter syndrome : an additional Egyptian patient with skeletal anomalies, bilateral iris and choroid colobomas, retinal hypoplasia and hypoplastic scrotum. The Egyptian Journal of Medical Human Genetics Vol. 17, no. 1 (Jan. 2016), pp.119-123.
https://search.emarefa.net/detail/BIM-655028
American Medical Association (AMA)
Shawqi, Rabah M.& Jamal, Radwah& Muhammad, Shayma Abd al-Sattar. Baraitser–winter syndrome : an additional Egyptian patient with skeletal anomalies, bilateral iris and choroid colobomas, retinal hypoplasia and hypoplastic scrotum. The Egyptian Journal of Medical Human Genetics. 2016. Vol. 17, no. 1, pp.119-123.
https://search.emarefa.net/detail/BIM-655028
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 122-123
Record ID
BIM-655028