Unusual prenatal presentation of rubinstein-taybi syndrome: A case report

Maria Francesca Bedeschi, Beatrice Letizia Crippa, Lorenzo Colombo, Sophie Guez, Marta Cerruti, Roberto Fogliani, Cristina Gervasini, Faustina Lalatta

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)2663-2666
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number10
DOIs
Publication statusPublished - 2014

Keywords

  • Broad thumb-hallux
  • CNS malformation
  • Distinctive face
  • Prenatal diagnosis
  • RTS
  • Rubinstein-Taybi syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

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