
Pediatric and systemic syndromes
Lowe syndrome
1:006 visual cues
In this image
Each number marks an object in the image and the finding it stands for.
- StoreLowe syndrome
- X + OCRLX-linked recessive OCRL mutation; Only affects males
- Two moonsBilateral congenital cataracts
- Broken sinkCongenital glaucoma; Abnormal angle development
- Floppy workerSevere hypotonia; Intellectual delay
- Broken kidneyRenal dysfunction; Fanconi syndrome
- ReviewEvery marker, in order
Transcript
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