Septate Uterus in a Girl with Rubinstein–Taybi Syndrome-Reference-Cited by-同舟云学术

Septate Uterus in a Girl with Rubinstein–Taybi Syndrome

Published:2018 Issue: Volume:2018 Page:1-4
ISSN:2090-6803
Container-title:Case Reports in Pediatrics
language:en
Short-container-title:Case Reports in Pediatrics

Author:

de Castro Coelho Filipa¹^ORCID,Câmara Sara¹^ORCID,Alves Inês²,Brazão Kathleen¹

Affiliation:

1. Department of Gynecology and Obstetrics, Hospital Dr. Nélio Mendonça, Serviço de Saúde da Região Autónoma da Madeira, E.P.E. (SESARAM), Funchal, Portugal

2. Department of Radiology, Hospital Dr. Nélio Mendonça, Serviço de Saúde da Região Autónoma da Madeira, E.P.E. (SESARAM), Funchal, Portugal

Abstract

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 müllerian duct anomalies with the condition. Our report extends the data on the clinical phenotype associated with Rubinstein–Taybi syndrome.

Publisher

Hindawi Limited

Subject

General Medicine

Link

http://downloads.hindawi.com/journals/cripe/2018/7878156.pdf

Reference10 articles.

1. Broad Thumbs and Toes and Facial Abnormalities

2. Rubinstein–Taybi syndrome

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1. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement;Journal of Medical Genetics;2024-03-12

2. Müllerian Agenesis in a patient with Rubinstein-Taybi Syndrome: A Case Series and Review of the Overlapping Developmental Biologic Pathways;Journal of Pediatric and Adolescent Gynecology;2024-02

3. Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder;Genes;2021-06-24

4. Rubinstein‐Taybi syndrome in Chinese population with four novel mutations;American Journal of Medical Genetics Part A;2020-10-16