Differences

This shows you the differences between two versions of the page.

--- kbg_syndrome [2025/04/16 03:36] – created Scott Larson
+++ kbg_syndrome [2025/06/14 04:29] (current) – [Resources] Scott Larson
@@ Line 1: / Line 1: @@
 ====== KBG Syndrome ======
+====Main Features====
+  *  Dental, Developmental, Skeletal and Craniofacial abnormalities
+====Eye Findings====
+  * Strabismus 22%
+  * Refractive Errors
+    * Astigmatism 27%
+    * Hyperopia 20%
+    * Myopia 15%
+====Other Findings====
+  *
+====Etiology====
+  * ANKRD11 mutations or delation of 16q24.3
+====Resources====
+  * [[https://1drv.ms/b/c/31d83ae8e55e0542/EfUUT4SClfJHlM7CD_XMMl4BfGeJnqVX5ucM7cIUwIYfCA?e=wJFMyl|Ocular manifestations in a cohort of 43 patients with KBG syndrome. Carter DC et al. Am J Med Genet. 2024;194A:e63473]]
+{{tag>syndrome}}

syndrome