Data di Pubblicazione:
2014
Citazione:
Unusual prenatal presentation of Rubinstein-Taybi syndrome: a case report / M.F. Bedeschi, B.L. Crippa, L. Colombo, S. Guez, M. Cerruti, R. Fogliani, C. Gervasini, F. Lalatta. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - 164:10(2014 Oct), pp. 2663-2666.
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 themolecular 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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Broad thumb-hallux; CNS malformation; Distinctive face; Prenatal diagnosis; RTS; Rubinstein-Taybi syndrome
Elenco autori:
M.F. Bedeschi, B.L. Crippa, L. Colombo, S. Guez, M. Cerruti, R. Fogliani, C. Gervasini, F. Lalatta
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