Unusual prenatal presentation of Rubinstein–Taybi syndrome: A case report. Issue 10 (29th July 2014)

• Record Type: Journal Article
• Authors: Bedeschi, Maria Francesca; Crippa, Beatrice Letizia; Colombo, Lorenzo; Guez, Sophie; Cerruti, Marta; Fogliani, Roberto; Gervasini, Cristina; Lalatta, Faustina
• Is Part Of: American journal of medical genetics. Volume 164:Issue 10(2014.)
• Page Start: 2663
• Page End: 2666
• Publication Date: 2014-07-29
• Subjects: Rubinstein–Taybi syndrome -- RTS -- prenatal diagnosis -- broad thumb‐hallux -- distinctive face -- CNS malformation; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36684
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: 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 multiple congenital anomalies. However, in the presence of the broad thumb and facial anomalies, we were able to suggest the correct diagnosis. The RTS was confirmed at birth and the molecular analysis of the major causative gene revealed a previously unreported heterozygous truncating mutation of CREBBP. This report provides new knowledge of the fetal phenotype of RTS. © 2014 Wiley Periodicals, Inc.