A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
Por um escritor misterioso
Last updated 05 julho 2024
![A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot](https://d3i71xaburhd42.cloudfront.net/ed0f7a1f21195adc8b3bf65659ba24794ad14381/2-Figure1-1.png)
A 8 years old male with classic Rubinstein-Taybi syndrome that has accompanied tetralogy of fallot is reported. Rubinstein-Taybi syndrome is a rare autosomal dominant syndrome characterized by facial dysmorphism, broad thumbs and halluces, short stature, intellectual disability and variable organ anomalies such as eye, genital, renal and cardiac anomalies. The characteristic facial features are high arched eye brows, downslanting palpebral fissures, ptosis, epicanthal folds, an extended columella, high arched palate, and dental abnormalities. Broad thumbs and halluces are distinctive features for Rubinstein-Taybi syndrome. A variety of congenital heart defects are reported in Rubinstein-Taybi syndrome. Tetralogy of fallot have been reported very rare in Rubinstein-Taybi syndrome so far. Here we report a 8 years old male with classic Rubinstein-Taybi syndrome that has accompanied tetralogy of fallot.
![A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot](https://www.ahajournals.org/cms/asset/68928001-46ff-488d-9a36-30cd2aff2be4/e653fig01.jpg)
Genetic Basis for Congenital Heart Disease: Revisited: A
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DiGeorge syndrome - Wikiwand
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Anesthetic management of a child with Cornelia de Lange Syndrome
![A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot](https://d3i71xaburhd42.cloudfront.net/ed0f7a1f21195adc8b3bf65659ba24794ad14381/3-Figure2-1.png)
A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
![A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot](https://media.springernature.com/m685/springer-static/image/art%3A10.1007%2Fs10875-020-00808-4/MediaObjects/10875_2020_808_Figa_HTML.png)
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein
![A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot](https://d3i71xaburhd42.cloudfront.net/0f68bdd05689a22e1caac27eaf78f6c32eb7572e/2-Figure1-1.png)
PDF] Rubinstein-Taybi Syndrome Associated with Pituitary
![A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot](https://ijdvl.com/content/126/2013/79/5/Images/ijdvl_2013_79_5_714_116751_f1.jpg)
Rubinstein-Taybi syndrome: A report of two siblings with
![A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot](https://onlinelibrary.wiley.com/cms/asset/639b6c1c-eec4-40cb-a69f-b2537e1e530b/cge14103-fig-0001-m.jpg)
Divergent variant patterns among 19 patients with Rubinstein‐Taybi
![A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot](https://onlinelibrary.wiley.com/cms/asset/a5a2351d-b639-4f29-bf8c-8115f578a4c5/ajmga37940-tbl-0001-m.jpg)
Phenotype and genotype in 52 patients with Rubinstein–Taybi
![A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot](https://f6publishing.blob.core.windows.net/a7a9dd9c-137e-4223-8b63-2a1ab9b60b69/WJC-14-54-g001.png)
Anesthetic management of a child with Cornelia de Lange Syndrome
![A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fs41598-021-95133-0/MediaObjects/41598_2021_95133_Fig1_HTML.jpg)
Identification of de novo EP300 and PLAU variants in a patient
Rubinstein Taybi Syndrome - MEDizzy
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PDF) Rubinstein-Taybi syndrome: A case report
![A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot](https://onlinelibrary.wiley.com/cms/asset/219453ee-7715-4224-86aa-0868af19ee0d/cge13493-toc-0001-m.jpg?trick=1700875205935)
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
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