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Egyptian Journal of Medical Human Genetics

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Baraitser–Winter syndrome: An additional Egyptian patient with skeletal anomalies, bilateral iris and choroid colobomas, retinal hypoplasia and hypoplastic scrotum

Rabah M. Shawky, Radwa Gamal, Shaimaa Abdelsattar Mohammad

Abstract


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.




http://dx.doi.org/10.1016/j.ejmhg.2015.04.004
AJOL African Journals Online