Open AccessBaraitser–Winter syndrome: An additional Arab patient
Author(s) -
Maha M. Abou Henedy,
Makia J. Marafie,
Sawsan J. Abulhasan
Publication year - 2010
Publication title -
the egyptian journal of medical human genetics /the egyptian journal of medical human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.253
H-Index - 17
eISSN - 2090-2441
pISSN - 1110-8630
DOI - 10.1016/j.ejmhg.2010.10.004
Subject(s) - hypertelorism , ptosis , chin , blepharophimosis , hypotonia , medicine , karyotype , pediatrics , anatomy , genetics , biology , chromosome , surgery , gene
AbstractAn 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