PMC3447217_01
(a) Photograph of the patient with BPES showing peculiar ocular deformities. (b) GTG-banding results showing two break points on one of the X chromosome.
CRIM.GENETICS2012-640563.001.jpg
PMC3447217_01_CRIM.GENETICS2012-640563.001.jpg
fig1
However, peculiar deformity of the eyelids was seen consisting of telecanthus, blepharophimosis, ptosis and epicanthus inversus (BPES) with a palpebral fissure length less than 2.5 cm (Figure 1(a)).