PMC5224418_01
Clinical and genetic findings: A) on attempted right gaze, abduction is absent and right ptosis is evident; B) in primary position, there is a small angle esotropia and right ptosis is evident; C) abduction is also absent on attempted left gaze, and the right lid elevates; D) polydactyly of the left hand is illustrated; E) family pedigree (arrow indicates proband); and F) Ideogram of chromosome 6 with the deletion location on the cytogenetic band marked by arrow head.
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F1
She had bilateral complete abduction defects (Figure 1) with retraction of each globe on abduction consistent with co-contraction of the medial and lateral rectus muscles. The patient's parents were not related, and she had 2 siblings, a normal older brother and a sister who had decreased vision by history (Figure 1E). TUBB3, and KIF21A genes. However, array CGH results documented a deletion in chromosome 6 extending from 43,002,148 to 43,018,858 (total size 16.7 Kb) at the 6p21.1 cytogenetic band (Figure 1F).
PMC5224418_02