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digeorge_syndrome [2025/06/04 18:05] – [Reference] Scott Larsondigeorge_syndrome [2025/06/14 03:47] (current) – [Eye Findings] Scott Larson
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 **Fundus Vascular Tortuosity and Optic Nerve anomaly in teenager with DiGeorge** **Fundus Vascular Tortuosity and Optic Nerve anomaly in teenager with DiGeorge**
-{{ :digeorge_fundus.png?600 |}}+{{:digeorge_fundus.jpg?|}}
 ====Other Findings==== ====Other Findings====
   * Renal, endocrine, immunologic, and psychiatric problems   * Renal, endocrine, immunologic, and psychiatric problems
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   * [[22q11_2_distal_deletion_syndrome|22q11.2 distal deletion syndrome]] is considered distinct from DiGeorge and is described separately   * [[22q11_2_distal_deletion_syndrome|22q11.2 distal deletion syndrome]] is considered distinct from DiGeorge and is described separately
 ====Reference==== ====Reference====
-  * [[https://bit.ly/3recnfO|Ocular Findings in 22q11.2 deletion syndome: A systematic literature reveiw and results of a Dutch multicenter study]] +  - [[https://pmc.ncbi.nlm.nih.gov/articles/PMC9298823/|Ocular Findings in 22q11.2 deletion syndome: A systematic literature reveiw and results of a Dutch multicenter study]] 
-  * [[https://www.sciencedirect.com/science/article/pii/S1091853121005371#bib2| Microphthalmia and orbital cysts in DiGeorge syndrome- JAAPOS]] +  - [[https://www.sciencedirect.com/science/article/pii/S1091853121005371#bib2| Microphthalmia and orbital cysts in DiGeorge syndrome- JAAPOS]]
-  * [[https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome/|Medline Plus]] +
-  * [[https://www.ncbi.nlm.nih.gov/books/NBK1523/|Gene Reviews]] +
-  * {{::22q11.2_deletion_syndrome.pdf |22q11.2 Deletion Syndrome. McDonald-McGinn DM et al. Nat Rev Dis Primers 2016;1:15071}} +
-  * [[https://pubmed.ncbi.nlm.nih.gov/30565249/|Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. Sullivan KE. Immunol Rev. 2019;287(1):186-201]] +
-  * {{::22q11_2_distal_deletion-_a_recurrent_genomic_disorder_distinct_from_digeorge_syndrome_and_velocardiofacial_syndrome.pdf |22q11.2 distal deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome. Ben-Shachar, S et al. American Journal of Human Genetics. 2008;82:214-221}} +
   - [[https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome/|Medline Plus]]   - [[https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome/|Medline Plus]]
   - [[https://www.ncbi.nlm.nih.gov/books/NBK1523/|Gene Reviews]]   - [[https://www.ncbi.nlm.nih.gov/books/NBK1523/|Gene Reviews]]
 +  - [[https://pubmed.ncbi.nlm.nih.gov/30565249/|Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. Sullivan KE. Immunol Rev. 2019;287(1):186-201]]
   - [[https://pubmed.ncbi.nlm.nih.gov/27189754/|22q11.2 Deletion Syndrome. McDonald-McGinn DM et al. Nat Rev Dis Primers 2016;1:15071]][[https://1drv.ms/b/c/31d83ae8e55e0542/EU8oB5VtUoJOgCwiO0yjK8IBon0vaHoaikwiwmCpETN0Kg?e=u9lePW|-]]   - [[https://pubmed.ncbi.nlm.nih.gov/27189754/|22q11.2 Deletion Syndrome. McDonald-McGinn DM et al. Nat Rev Dis Primers 2016;1:15071]][[https://1drv.ms/b/c/31d83ae8e55e0542/EU8oB5VtUoJOgCwiO0yjK8IBon0vaHoaikwiwmCpETN0Kg?e=u9lePW|-]]
   - [[https://pubmed.ncbi.nlm.nih.gov/30565249/|Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. Sullivan KE. Immunol Rev. 2019;287(1):186-201]]   - [[https://pubmed.ncbi.nlm.nih.gov/30565249/|Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. Sullivan KE. Immunol Rev. 2019;287(1):186-201]]