Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay.

Blepharophimosis-ptosis-epicanthus inversus syndrome(BPES; OMIM110100) is a genetic disorder usually inherited in an autosomal dominant manner. Primarily, its diagnosis is based on four major features present at birth: short horizontal palpebral fissures (blepharophimosis), drooping of the eyelids (ptosis), a vertical fold of skin from the lower eyelid up either side of the nose (epicanthus inversus), and lateral displacement of the inner canthi with normal interpupillary distance(telecanthus; Oley and Baraitser, 1988). Two types of BPES are recognized: type I BPES includes the four major eyelid features and female infertility as a result of premature ovarian failure, whereas type II BPES consists only of eyelid abnormalities (Zlotogora et al.