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1p36_deletion_syndrome [2025/03/02 16:03] – Scott Larson1p36_deletion_syndrome [2026/08/08 20:11] (current) – [Resources] Scott Larson
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 ====Eye Findings==== ====Eye Findings====
-  * Strabismus +  * Poor vision responses (visually inattentive) 44%-64% 
-  * Refractive Error +  * Strabismus 35%-67% 
-  * Optic nerve atrophy  +    * Horizontal 
-  * bilateral lamellar cataract +    * Duane Syndrome- 2 cases 
 +  * Refractive Errors 
 +    * Hyperopia 41%-67% 
 +    * Myopia 17%-40% 
 +    * Astigmatism 23% 
 +  * Nystagmus 13%-23% 
 +  * Cataract 
 +    * Unilateral cataract 6% 
 +    * Bilateral lamellar cataract- 2 cases  
 +  * Retinal "albinism" 6% 
 +  * Optic nerve coloboma 3% 
 +  
 ====Other Findings==== ====Other Findings====
-  * {{::1p36_deletion_summary.png?|}}\\ from Reference (2):[[http://www.1p36dsa.org|1p36 Deletion Syndrome Support]]+<WRAP round box> 
 +{{::1p36_deletion_summary.jpg?|}} \\  
 +from Reference (2):[[http://www.1p36dsa.org|1p36 Deletion Syndrome Support]] 
 +</WRAP>
   * Microbrachycephaly   * Microbrachycephaly
   * Distinctive facial features   * Distinctive facial features
     * Deep-set eyes, straight eye brows, mid face hypoplasia, broad flat nose, long philtrum, pointed chin, low-set and     * Deep-set eyes, straight eye brows, mid face hypoplasia, broad flat nose, long philtrum, pointed chin, low-set and
     * backwards rotated ears     * backwards rotated ears
-    * {{::1p36_syndome_face.png|}} \\ from Reference (1)+<WRAP round box> 
 +{{::1p36_syndome_face.jpg|}} \\  
 +from Reference (1) 
 +</WRAP>
   * Brachylactyly    * Brachylactyly 
   * camptodactyly    * camptodactyly 
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 ====Etiology==== ====Etiology====
   * Deletion of 1p36   * Deletion of 1p36
 +  * 1:5,000 newborns
 +  * Most common terminal deletion syndrome
 ====Resources==== ====Resources====
- +  - [[https://pubmed.ncbi.nlm.nih.gov/18245432/|Battaglia A et al. Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation. Pediatrics 2008;121(2):404-410]]
-  - {{::1p36_syndome_in_60_patients_2007.pdf |Battaglia A et al. Further Delineation of Deletion 1p36 Syndrome in 60 +
-Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation. Pediatrics 2008;121(2):404-410}}+
   - [[http://www.1p36dsa.org|1p36 Deletion Support]]   - [[http://www.1p36dsa.org|1p36 Deletion Support]]
-  - {{::cataract_in_1p36_deletion_syndrome.pdf |Danese C et al. Noncongenital juvenile-onset bilateral lamellar cataract in 1p36 deletionsyndrome. Journal of AAPOS 2021;25(6):368-370}} +  - [[https://www.clinicalkey.com/#!/content/playContent/1-s2.0-S1091853121003360?returnurl=https:%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS1091853121003360%3Fshowall%3Dtrue&referrer=|Danese C et al. Noncongenital juvenile-onset bilateral lamellar cataract in 1p36 deletionsyndrome. Journal of AAPOS 2021;25(6):368-370]] [[https://1drv.ms/b/c/31d83ae8e55e0542/EStOtmEbeAFOg3kXLgGEqaEBBOPJRQWg8I9RROoo9Hu0_Q?e=SBwAZO|-]]
- +
  
  
  
 {{tag>syndrome}} {{tag>syndrome}}