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Pediatric and systemic syndromes

BPES

Blepharophimosis–ptosis–epicanthus inversus syndrome

1:477 visual cues1 clinical photo

In this image

Each number marks an object in the image and the finding it stands for.

  1. FoxFOXL2 mutation
  2. OpeningsBlepharophimosis
  3. LidsCongenital ptosis · Poor levator function
  4. FoldsEpicanthus inversus
  5. TelephoneTelecanthus
  6. DominoAutosomal dominant inheritance
  7. EggsBPES Type I and Type II
  8. ReviewEvery marker, in order

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Clinical image credits

Openly licensed photographs used in this lesson, with what was changed.

  1. Lin Z-B et al. (2023). Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family. BMC Ophthalmology 23:446. Figure 2a, upper eyelid photographs. © The Author(s) 2023.

    CC BY 4.0ArticleDOI

    Cropped to the upper photo row of panel a; no other visual changes.

    Exact changes

    Exact rectangular crop [0, 0, 672, 317] from the 1416 × 637 publisher original. Retains complete upper eyelid photograph pair of panel a, its original a. label and border; excludes lower fundus photos and all of panel b. Re-encoded losslessly as RGB PNG with decoded RGB pixels identical to original crop. No retouching, recoloring, enhancement, new arrows, or upscaling.