Author(s):
Coellho, Filipa de Castro ; Câmara, Sara ; Alves, Inés ; Brazão, Kathleen
Date: 2018
Persistent ID: http://hdl.handle.net/10400.26/28048
Origin: Serviço de Saúde da Região Autónoma da Madeira, E.P.E.
Subject(s): Septate Uterus; Rubinstein-Taybi Syndrome; Mullerian Duct Anomalies; Madeira; Portugal; Malformações Congenitas Uterinas
Description
Rubinstein–Taybi syndrome is an extremely rare plurimalformative condition that can affect any organ. However, reports regarding gynecological problems are unusual. We report the first case of a septate uterus in an adolescent with this syndrome, in agreement with the American Society for Reproductive Medicine (ASRM) and the Congenital Uterine Malformations by Expert (CUME) criteria for uterine septum. Additional studies are required to determine whether there is an increased frequency of m¨ullerian duct anomalies with the condition. Our report extends the data on the clinical phenotype associated with Rubinstein–Taybi syndrome.