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| noonan [2022/09/26 02:23] – [Main Features] Scott Larson | noonan [2025/06/14 04:17] (current) – [Resources] Scott Larson |
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| * depressed nasal bridge | * depressed nasal bridge |
| * low-set posteriorly rotated ears with fleshy helices | * low-set posteriorly rotated ears with fleshy helices |
| {{::noonan_syndrome.png?direct&600|}} | <WRAP round box> |
| Photo from [[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049850/pdf/jmedgene00075-0018.pdf|J Med Genet. 1987;24(1):9-13.]] | {{::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> |
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| ====Eye Findings==== | ====Eye Findings==== |
| * Autosomal dominant inheritance most commonly with 2/3 denovo | * Autosomal dominant inheritance most commonly with 2/3 denovo |
| * Associated with advanced paternal age | * Associated with advanced paternal age |
| ====Reference==== | ====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://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.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://eyewiki.aao.org/Noonan_Syndrome#Ophthalmic_presentation|eyeWiki]] | - [[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]] |
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| {{tag>syndrome}} | {{tag>syndrome}} |
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