A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
Por um escritor misterioso
Last updated 01 junho 2024
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.
Rubinstein Taybi Syndrome - MEDizzy
Other genomic disorders and congenital heart disease - Lalani
Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein
Rubinstein-Taybi syndrome: MedlinePlus Genetics
Identification of de novo EP300 and PLAU variants in a patient
Cureus The Prevalence of Congenital Heart Diseases in Syndromic
Congenital Malformations and Syndromes: Early Diagnosis and
William Newman
Two adults with Rubinstein–Taybi syndrome with mild mental
Pediatric on Squares on X: Rubinstein Taybi Syndrome #Pediatric
Congenital Malformations and Syndromes: Early Diagnosis and
DiGeorge syndrome - Wikiwand
Dandy walker variant an association with Rubinstein Taybi syndrome
A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
Divergent variant patterns among 19 patients with Rubinstein‐Taybi
Recomendado para você
-
Exon deletions of the EP300 and CREBBP genes in two children with01 junho 2024
-
Severe persistent pulmonary hypertension in a neonate with01 junho 2024
-
Silas : Rubinstein-Taybi Syndrome » SWEET NECTAR SOCIETY01 junho 2024
-
Dentocyclopedia - rubinstein taybi syndrome01 junho 2024
-
Rubinstein-Taybi Syndrome Images — DermNet01 junho 2024
-
Rubinstein-Taybi syndrome (broad thumb-hallux syndrome)01 junho 2024
-
Long-term results following osteotomy of the thumb delta phalanx01 junho 2024
-
Coloboma Associated With Rubinstein-Taybi Syndrome01 junho 2024
-
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library01 junho 2024
-
High frequency of copy number imbalances in Rubinstein–Taybi01 junho 2024
você pode gostar
-
Telemad: Anime series The Promised Neverland, about orphan kids01 junho 2024
-
futebol bola dentro fogo e água. ilustração do a futebol bola envelope dentro elementos em Preto fundo. ai gerado. 25472255 Foto de stock no Vecteezy01 junho 2024
-
Weapons, New World Wiki01 junho 2024
-
Anime Anime - Domestic Na Kanojo Episode 1 👇👇01 junho 2024
-
Árvore De Natal Branca Decorada 90 Cm Com Galhos01 junho 2024
-
High School of the Dead01 junho 2024
-
Estrutura - Hospital Evangélico01 junho 2024
-
Unown V01 junho 2024
-
Xadrez Tema HD widescreen wallpaper 16, HD papel de parede01 junho 2024
-
Regras do Jogo de damas01 junho 2024