Abstract
The Rubinstein–Taybi syndrome (RTS) is characterized by microcephaly, dysmorphic face, short stature, mental retardation, broad thumbs and big toes. Although premature thelarche had been described in children with Rubinstein–Taybi syndrome, premature vaginal bleeding had been described only in one case.It is shown that RTS can be caused by mutations in intracellular multiple signal transduction pathways (CREBbinding protein-CBP or EP300). It is speculated that premature thelarche in RTS is caused by hormonal deficiency secondary to intracellular signal transduction defects. Here we report a 7.2-year-old girl with RTS, premature thelarche and premature vaginal bleeding who was diagnosed as ALL when she was 2 years old
Keywords: Rubinstein-Taybi Syndrome, Premature thelarche, premature vaginal bleeding
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Copyright and license
Copyright © 2010 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.
