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trisomy_18 [2025/09/30 20:50] – [Eye Findings] Scott Larsontrisomy_18 [2026/01/26 22:15] (current) – Scott Larson
Line 16: Line 16:
   * Microphthalmia   * Microphthalmia
   * Strabismus   * Strabismus
-  * Corneal opacities +  * Corneal opacities, Microcornia 
-  * Iris or choroid coloboma+  * Glaucoma  
 +  * Iris or choroid coloboma 
   * Cataract   * Cataract
 +  * Anterior segment dysgenesis
   * Eyelids   * Eyelids
     * Ptosis     * Ptosis
Line 24: Line 26:
     * hypertelorism     * hypertelorism
   * Nystagmus reported but more rare, often in the setting of brain malformation   * Nystagmus reported but more rare, often in the setting of brain malformation
 +  * Retinal vascular tortuosity
 ====Other Findings==== ====Other Findings====
   * Cardiac   * Cardiac
Line 38: Line 41:
   * [[https://medlineplus.gov/genetics/condition/trisomy-18/|Medline Plus Trisomy 18]]   * [[https://medlineplus.gov/genetics/condition/trisomy-18/|Medline Plus Trisomy 18]]
   * [[https://pubmed.ncbi.nlm.nih.gov/26347425/|Congenital Anomalies associated with Trisomy 18 or Trisomy 13: A registry-based study in 16 European countries, 2000-2011. Springett A. et al. Am J Med Genet A. 2015 (12):3062-3069.]]   * [[https://pubmed.ncbi.nlm.nih.gov/26347425/|Congenital Anomalies associated with Trisomy 18 or Trisomy 13: A registry-based study in 16 European countries, 2000-2011. Springett A. et al. Am J Med Genet A. 2015 (12):3062-3069.]]
 +  * [[https://1drv.ms/b/c/31D83AE8E55E0542/AeixkAJ_9W5ApAulfN9vp6M?e=hwnAUH|A Case of Anterior Segment Dysgenesis with Iridolenticular Adhesions in Trisomy 18. Atwal PS. J Pediatr Genet 2015;4:207-208.]] 
 +  * Velzeboer CM, van der Harten JJ, Koole FD. Ocular pathology in trisomy 18. A histopathological report of three cases. Ophthalmic Paediatr Genet 1989;10(4):263–269
  
 {{tag>syndrome}} {{tag>syndrome}}