Differences

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--- congenital_cataract_etiology [2025/10/27 18:49] – Scott Larson
+++ congenital_cataract_etiology [2026/02/02 19:34] (current) – Scott Larson
@@ Line 51: / Line 51: @@
     * Fetal warfarin exposure
     * Mannosidosis
-    * Marshall-Stickler syndrome
+    * Marshall syndrome
+    * [[stickler_syndrome|Stickler syndrome]]
     * Schwartz-Jampel syndrome
   * Limb anomalities
@@ Line 106: / Line 107: @@
 |Stickler	|COL2A1, COL11A1	|Yes (palate)	|Yes	|Myopia, hearing loss, arthritis	| [[https://pubmed.ncbi.nlm.nih.gov/121911|Hall JG, Herrod H. The Stickler Syndrome Presenting as a Dominantly Inherited Cleft Palate and Blindness. 9. Journal of Medical Genetics. 1975;12(4):397-400.]]|
 |Roberts	|ESCO2	|Yes	|Yes	|Limb reduction, growth deficiency	|[[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555769/ |Pierpont ME, et al. Genetic Basis for Congenital Heart Disease. Circulation. 2018;138(21):e653-e711.]]|
-|Trisomy 13	|Chromosomal	|Yes	|Yes	|Multiple anomalies	|[[https://pubmed.ncbi.nlm.nih.gov/35179301| Stoll C,et al. Co-Occurring Anomalies in Congenital Oral Clefts.  American Journal of Medical Genetics. Part A. 2022;188(6):1700-1715.]]|
+|[[trisomy_13|Trisomy 13]]	|Chromosomal	|Yes	|Yes	|Multiple anomalies	|[[https://pubmed.ncbi.nlm.nih.gov/35179301| Stoll C,et al. Co-Occurring Anomalies in Congenital Oral Clefts.  American Journal of Medical Genetics. Part A. 2022;188(6):1700-1715.]]|

cataract