Differences

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--- trisomy_18 [2025/09/29 14:54] – Scott Larson
+++ trisomy_18 [2026/01/26 22:15] (current) – Scott Larson
@@ Line 4: / Line 4: @@
   *  Constellation of congenital anomalies affecting multiple organ systems (face, cardiac, renal, GI, CNS)
     * Characteristic physical features
-      * Small head, micrognatia, low-set malformed ears, rocker bottom feet
+      * Small head, micrognatia, low-set malformed ears, overlapping fingers rocker bottom feet
       * Short sternum, underdeveloped thumbs, small fingernails
     * Neurologic impairment with severe psychomotor and cognitive disability
@@ Line 16: / Line 16: @@
   * Microphthalmia
   * Strabismus
-  * Corneal opacities
+  * Corneal opacities, Microcornia
-  * Iris or choroid coloboma
+  * Glaucoma
+  * Iris or choroid coloboma
   * Cataract
+  * Anterior segment dysgenesis
   * Eyelids
     * Ptosis
     * epicanthus
     * hypertelorism
+  * Nystagmus reported but more rare, often in the setting of brain malformation
+  * Retinal vascular tortuosity
 ====Other Findings====
   * Cardiac
@@ Line 37: / Line 41: @@
   * [[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://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}}

syndrome