A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
Por um escritor misterioso
Last updated 29 junho 2024
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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.
DBMCI MDS : Formerly MDS Experts - RUBINSTEIN TAYBI SYNDROME An
![A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot](https://onlinelibrary.wiley.com/cms/asset/6cd03fb3-6fb1-4215-b50c-765a26708e01/jum14342-fig-0002-m.jpg)
Rubinstein‐Taybi Syndrome in a Fetus: Contribution of 2‐ and 3
![A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot](https://prod-images-static.radiopaedia.org/images/1481326/9879b56699a9e6576b669b39f306ab_gallery.jpg)
Rubinstein-Taybi syndrome Radiology Reference Article
![A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot](https://casereports.bmj.com/content/bmjcr/14/8/e242349/F1.large.jpg)
Low bone mineral density on DXA and slipped capital femoral
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DiGeorge syndrome - Wikiwand
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Congenital diaphragmatic hernia in Coffin Siris syndrome: Further
![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://0.academia-photos.com/attachment_thumbnails/74496282/mini_magick20211110-2130-82fw1w.png?1636564977)
BERHAMPUR UNIVERSITY ,BHANJABIHAR.ODISHA
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A case of rubinstein-taybi syndrome with tetralogy of fallot
![A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot](https://medlineplus.gov/images/PX0002BU_PRESENTATION.jpeg)
Rubinstein-Taybi syndrome: MedlinePlus Genetics
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A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
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A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
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