Unusual prenatal presentation of Rubinstein-Taybi syndrome: a case report.
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.
['Bedeschi|Maria Francesca|MF|', 'Crippa|Beatrice Letizia|BL|', 'Colombo|Lorenzo|L|', 'Guez|Sophie|S|', 'Cerruti|Marta|M|', 'Fogliani|Roberto|R|', 'Gervasini|Cristina|C|', 'Lalatta|Faustina|F|']
D000015:Abnormalities, Multiple D005333:Fetus D006801:Humans D008297:Male D010641:Phenotype D011296:Prenatal Diagnosis D012415:Rubinstein-Taybi Syndrome
Rubinstein-Taybi syndrome RTS CNS malformation broad thumb-hallux distinctive face prenatal diagnosis