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rubenstein-taybi [2015/11/10 03:53] – external edit 127.0.0.1rubenstein-taybi [2025/05/19 00:02] (current) – [Eye Findings] Scott Larson
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 ======Rubinstein-Taybi Syndrome ====== ======Rubinstein-Taybi Syndrome ======
- +====Main Features==== 
-=====Main Features===== +  * Mental Retardation 
- +  * Speech difficulties 
-Mental Retardation, Speech difficulty, broad thumbs and toes, often medially deviated +  * Broad thumbs and toes, often medially deviated 
- +====Eye Findings====
-=====Eye Findings===== +
   * External:    * External: 
     * Down-slanting palpebral fissures (88%)     * Down-slanting palpebral fissures (88%)
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     * epicanthal folds (55%)     * epicanthal folds (55%)
   * Abnormal ERG (78%)   * Abnormal ERG (78%)
-  * Decreased Cone or Cone & Rod response+    * Decreased Cone or Cone & Rod response
   * Macular abnormalities (75%)   * Macular abnormalities (75%)
-  * Hypoplasia, pigment abnormalities, increased red color, absent foveal reflex+    * Hypoplasia, pigment abnormalities, increased red color, absent foveal reflex
   * Abnormal VEP (60%)   * Abnormal VEP (60%)
   * Strabismus (70%)   * Strabismus (70%)
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   * Microphthalmia (5%)   * Microphthalmia (5%)
   * Nystagmus (4%)   * Nystagmus (4%)
-  * Ectopia Lentis (<1%) +  * [[ectopia_lentis|Ectopia Lentis]] (<1%) 
- +====Etiology====
-=====Etiology===== +
   * 1/100,000 newborns   * 1/100,000 newborns
   * Autosomal Dominant   * Autosomal Dominant
   * Many from Chromosome 16p13.3 microdeletions or mutation in gene for CREB binding protein found in this area (19%)   * Many from Chromosome 16p13.3 microdeletions or mutation in gene for CREB binding protein found in this area (19%)
   * Also 22q13: E1A binding protein   * Also 22q13: E1A binding protein
- +====Other Findings====
-=====Other Findings===== +
   * Postnatal growth retardation   * Postnatal growth retardation
   * Males 153 cm average   * Males 153 cm average
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   * Syndactyly, Polydactyly   * Syndactyly, Polydactyly
   * Keloid formation   * Keloid formation
- +====References====
-=====References===== +
   * [[http://omim.org/entry/180849|OMIM #180849]]   * [[http://omim.org/entry/180849|OMIM #180849]]
   * Wright, Spiegel eds. Pediatric Ophthalmology and Strabismsus 2nd ed. p 1051   * Wright, Spiegel eds. Pediatric Ophthalmology and Strabismsus 2nd ed. p 1051