Alanna Strong

2 months ago | onlinelibrary.wiley.com | Devi Priyanka Maripuri |Jessica Gold |Nina Gold |Alanna Strong

1 Introduction Rubinstein Taybi syndrome (RTS, OMIM #180849, and OMIM #613684) is an autosomal dominant disorder characterized by a distinct facial gestalt (ptosis, epicanthus, down-slanting palpebral fissures, broad nasal bridge with a convex nasal ridge and low-hanging columella, microretrognathia), broad and radially deviated thumbs and great toes, genitourinary malformations, congenital heart disease, feeding difficulties, and global developmental delay with intellectual disability...