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Unusual prenatal presentation of Rubinstein–Taybi syndrome: A case report
Author(s) -
Bedeschi Maria Francesca,
Crippa Beatrice Letizia,
Colombo Lorenzo,
Guez Sophie,
Cerruti Marta,
Fogliani Roberto,
Gervasini Cristina,
Lalatta Faustina
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36684
Subject(s) - rubinstein–taybi syndrome , prenatal diagnosis , presentation (obstetrics) , pediatrics , medicine , creb binding protein , pregnancy , fetus , genetics , dermatology , biology , gene , obstetrics , creb , transcription factor
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.