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Egyptian Journal of Medical Human Genetics

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Baraitser–Winter syndrome: An additional Arab patient

MMA Henedy, MJ Marafie, SJ Abulhasan

Abstract


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.



http://dx.doi.org/10.1016/j.ejmhg.2010.10.004
AJOL African Journals Online