Differences

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

--- smith-magenis_syndrome [2022/03/03 22:05] – [Eye Findings] Scott Larson
+++ smith-magenis_syndrome [2025/06/14 02:11] (current) – Scott Larson
@@ Line 2: / Line 2: @@
 ====Main Features====
   * Distinctive physical features
-    * Brachycephaly, broad and flat facies, mid-facial hypoplasia, synophrys, downturned upper lip, prognathism, malformed and malpositioned helices
+    * Brachycephaly, broad nasal bridge, prominent forehead, synophrys, downturned upper lip, prognathism, malformed and malpositioned helices
     * [[https://www.ncbi.nlm.nih.gov/books/NBK1310/figure/sms.F1/?report=objectonly|Infants]]
     * [[https://www.ncbi.nlm.nih.gov/books/NBK1310/figure/sms.F2/?report=objectonly|School Age]]
     * [[https://www.ncbi.nlm.nih.gov/books/NBK1310/figure/sms.F3/?report=objectonly|Adolescent]]
+{{:Smith-Magenis_face.jpg}}
+From 2. Ophthalmic Manifestations of Smith-Magenis Syndrome. Ophthalmology 1996
   * Developmental delay
   * Cognitive impairment
@@ Line 30: / Line 33: @@
   * Heterozygous deletion at chromosome 17p11.2 that includes RAI1 or a heterozygous intragenic RAI1 pathogenic variant.
 ==== References ====
-[[https://www.ncbi.nlm.nih.gov/books/NBK1310/|Gene Reviews]]\\
+  - [[https://www.ncbi.nlm.nih.gov/books/NBK1310/|Gene Reviews]]
-{{:ophthalmic_manifestations_of_smith-magenis_syndrome_1996.pdf|Ophthalmic Manifestations of Smith-Magenis Syndrome. Ophthalmology 1996]]
+  - [[https://1drv.ms/b/c/31d83ae8e55e0542/EbJgXrXrjRFHvvrIPijPUQ4BaVKWok9DbwnFjIdvwAgvew?e=ggHb8D|Chen RM. et al.  Ophthalmic Manifestations of Smith-Magenis Syndrome. Ophthalmology 1996;103:1084-1091]]
 {{tag>syndrome}}

syndrome