title: Unusual prenatal presentation of Rubinstein-Taybi syndrome: a case report.
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.
authors: Medical Genetics Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
authors: Maria Francesca
authors: MF
authors: Bedeschi
authors: Beatrice Letizia
authors: BL
authors: Crippa
authors: Lorenzo
authors: L
authors: Colombo
authors: Sophie
authors: S
authors: Guez
authors: Marta
authors: M
authors: Cerruti
authors: Roberto
authors: R
authors: Fogliani
authors: Cristina
authors: C
authors: Gervasini
authors: Faustina
authors: F
authors: Lalatta
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D005333:Fetus / Q000002:abnormalities*; D006801:Humans; D008297:Male; D010641:Phenotype; D011296:Prenatal Diagnosis / Q000379:methods; D012415:Rubinstein-Taybi Syndrome / Q000235:genetics*
keywords: CNS malformation; RTS; Rubinstein-Taybi syndrome; broad thumb-hallux; distinctive face; prenatal diagnosis