Baraitser–Winter syndrome: An additional Egyptian patient with skeletal anomalies, bilateral iris and choroid colobomas, retinal hypoplasia and hypoplastic scrotum
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, bilate...
Main Authors: | , , |
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Format: | Article |
Language: | English |
Published: |
SpringerOpen
2016-01-01
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Series: | Egyptian Journal of Medical Human Genetics |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1110863015000464 |