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--- noonan [2022/09/26 01:55] – [Other Findings] Scott Larson
+++ noonan [2025/06/14 04:17] (current) – [Resources] Scott Larson
@@ Line 6: / Line 6: @@
     * depressed nasal bridge
     * low-set posteriorly rotated ears with fleshy helices
+<WRAP round box>
+{{::noonan_syndrome.jpg?|}}
+{{::noonan_syndrome_child.jpg?|}}
+Photos from [[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049850/pdf/jmedgene00075-0018.pdf|J Med Genet. 1987;24(1):9-13.]]
+</WRAP>
 ====Eye Findings====
@@ Line 45: / Line 50: @@
     * abnormal platelets, count and function
 ====Etiology====
-  *
+  * Genetic disorder of the genes in the RAS-MAPK pathway
-====Reference====
+    * PTPN11 (50%)
-  * [[link|Title]]
+    * SOS1 (13%)
+    * RAF1 (5%)
+    * RIT1 (5%)
+    * others
+      * KRAS, BRAF, LZTR1, NRAS
+  * This pathway is important in cellular differentiation and proliferation
+  * Autosomal dominant inheritance most commonly with 2/3 denovo
+  * Associated with advanced paternal age
+====Resources====
+  - [[https://doi.org/10.1007/s00431-018-3183-1| van Trier, et al. Ocular findings in NS: a retrospective cohort study of 105 patients. European Journal of Pediatrics. 2018;177(8):1293–1298]]
+  - [[https://www.aaojournal.org/article/S0161-6420(16)30594-2/fulltext|van Trier et al. Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. Ophthalmology.2016;123(10):2134-2146]]
+  - [[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049850/pdf/jmedgene00075-0018.pdf|Allanson, JE. Noonan Syndrome. J Med Genet. 1987;24(1):9-13.]]
+  - [[https://eyewiki.aao.org/Noonan_Syndrome#Ophthalmic_presentation|eyeWiki]]
 {{tag>syndrome}}

syndrome