Article
Unusual prenatal presentation of Rubinstein-Taybi syndrome: a case report.
American journal of medical genetics. Part A - 1 Oct 2014
Bedeschi Maria Francesca, Crippa Beatrice Letizia, Colombo Lorenzo, Guez Sophie, Cerruti Marta, Fogliani Roberto, Gervasini Cristina, Lalatta Faustina
Abstract excerpt
Rubinstein-Taybi syndrome (RTS) is a rare multiple congenital anomalies-intellectual disability syndrome. The diagnosis is made after birth and based on the detection of signs such as growth and developmental delay, minor facial anomalies, and broad thumbs and halluces. It is rare to suspect RTS during the prenatal period. We report here the approach to a patient with RTS whose pregnancy was complicated by...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.