Differences
This shows you the differences between two versions of the page.
| Both sides previous revision Previous revision Next revision | Previous revision | ||
| smith-magenis_syndrome [2022/03/03 15:09] – [References] Scott Larson | smith-magenis_syndrome [2026/07/27 12:09] (current) – [Eye Findings] Scott Larson | ||
|---|---|---|---|
| Line 7: | Line 7: | ||
| * [[https:// | * [[https:// | ||
| - | {{: | + | {{: |
| + | From 2. Ophthalmic Manifestations of Smith-Magenis Syndrome. Ophthalmology 1996 | ||
| * Developmental delay | * Developmental delay | ||
| * Cognitive impairment | * Cognitive impairment | ||
| Line 24: | Line 25: | ||
| * Strabismus (32%) | * Strabismus (32%) | ||
| * Esotropia > Exotropia > Hypertropia | * Esotropia > Exotropia > Hypertropia | ||
| - | * Microphthalmos (rare) | + | * [[microphthalmos|Microphthalmos]] (rare) |
| * Uveal and Retinal Coloboma (rare) | * Uveal and Retinal Coloboma (rare) | ||
| Line 32: | Line 33: | ||
| * Heterozygous deletion at chromosome 17p11.2 that includes RAI1 or a heterozygous intragenic RAI1 pathogenic variant. | * Heterozygous deletion at chromosome 17p11.2 that includes RAI1 or a heterozygous intragenic RAI1 pathogenic variant. | ||
| ==== References ==== | ==== References ==== | ||
| - | - [[https:// | + | - [[https:// |
| - | - {{:ophthalmic_manifestations_of_smith-magenis_syndrome_1996.pdf|Ophthalmic Manifestations of Smith-Magenis Syndrome. Ophthalmology 1996]] | + | - [[https://1drv.ms/ |
| {{tag> | {{tag> | ||