Baraitser–Winter syndrome: An additional Arab patient

• DOI: 10.1016/j.ejmhg.2010.10.004
• Publication Date: 2011-02-17T06:52:27Z
• Authors: Maha M. Abou Henedy; Makia J. Marafie; Sawsan J. Abulhasan
• Keywords: Hypertelorism; Blepharophimosis

An Arab child is presented herein with a phenotype that fits the rare Baraitser–Winter syndrome. Her clinical features included 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 developmental delay. Chromosomal analysis of peripheral lymphocytes FISH study revealed normal 46, XX karyotype. To date, syndrome has only been reported in 19 patients different ethnic families. The present case adds new finding to spectrum malformations published before.