[Clinical features of Rubinstein-Taybi syndrome and novel mutation in the CREBBP gene: an analysis of one case].

Abstract excerpt

The patient was a girl aged 3 years and 8 months with normal body length and body weight at birth. The girl had feeding difficulty after birth. Her height, body weight, and head circumference were below the 3rd percentile. She had intellectual disability and an unusual facies manifesting as arched shaggy eyebrows, down-slanting palpebral fissures, and broad nasal bridge, but had no a beaked nose, broad thumbs, or...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child, Preschool
• Share to CREB-Binding Protein