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| rubenstein-taybi [2015/06/20 16:40] – admin | rubenstein-taybi [2025/05/19 00:02] (current) – [Eye Findings] Scott Larson | ||
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| + | ======Rubinstein-Taybi Syndrome ====== | ||
| + | ====Main Features==== | ||
| + | * Mental Retardation | ||
| + | * Speech difficulties | ||
| + | * Broad thumbs and toes, often medially deviated | ||
| + | ====Eye Findings==== | ||
| + | * External: | ||
| + | * Down-slanting palpebral fissures (88%) | ||
| + | * Heavy eyebrows or high arched (76%) | ||
| + | * long eyelashes (89%) | ||
| + | * epicanthal folds (55%) | ||
| + | * Abnormal ERG (78%) | ||
| + | * Decreased Cone or Cone & Rod response | ||
| + | * Macular abnormalities (75%) | ||
| + | * Hypoplasia, pigment abnormalities, | ||
| + | * Abnormal VEP (60%) | ||
| + | * Strabismus (70%) | ||
| + | * Refractive Error (50%) | ||
| + | * NLD obstruction (40%) | ||
| + | * Ptosis (35%) | ||
| + | * Glaucoma (35%) | ||
| + | * Coloboma (25%) | ||
| + | * Congenital Cataract (25%) | ||
| + | * High Myopia (10%) | ||
| + | * Optic atrophy/ | ||
| + | * Chorioretinal Dystrophy (5%) | ||
| + | * Microphthalmia (5%) | ||
| + | * Nystagmus (4%) | ||
| + | * [[ectopia_lentis|Ectopia Lentis]] (<1%) | ||
| + | ====Etiology==== | ||
| + | * 1/100,000 newborns | ||
| + | * Autosomal Dominant | ||
| + | * Many from Chromosome 16p13.3 microdeletions or mutation in gene for CREB binding protein found in this area (19%) | ||
| + | * Also 22q13: E1A binding protein | ||
| + | ====Other Findings==== | ||
| + | * Postnatal growth retardation | ||
| + | * Males 153 cm average | ||
| + | * Females 147 cm average | ||
| + | * Microcephaly | ||
| + | * Agenesis of Corpus Callosum | ||
| + | * Seizures | ||
| + | * Hypoplastic maxilla, micrognathia | ||
| + | * Beaked nose, deviated septum | ||
| + | * PDA, ASD, VSD | ||
| + | * Capillary Hemangiomas | ||
| + | * Sternal anomalies | ||
| + | * Hypospadias, | ||
| + | * Hirsutism | ||
| + | * Spina Bifida | ||
| + | * Syndactyly, Polydactyly | ||
| + | * Keloid formation | ||
| + | ====References==== | ||
| + | * [[http:// | ||
| + | * Wright, Spiegel eds. Pediatric Ophthalmology and Strabismsus 2nd ed. p 1051 | ||
| + | * Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature. van Genderen MM et al. BJO 2000 Oct; | ||
| + | * [[http:// | ||
| + | {{tag> | ||