Septate Uterus in a Girl with Rubinstein-Taybi Syndrome

Case Reports in Pediatrics
Filipa de Castro CoelhoKathleen Brazão

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.

References

Jan 13, 2000·Fertility and Sterility·H A HomerI D Cooke
Mar 23, 2000·American Journal of Medical Genetics·J L Simpson
May 16, 2003·American Journal of Medical Genetics. Part a·Susan WileyCathy A Stevens
Jun 1, 1963·American Journal of Diseases of Children·J H RUBINSTEIN, H TAYBI
Jul 27, 2006·European Journal of Human Genetics : EJHG·Raoul C M Hennekam
Jan 21, 2015·Italian Journal of Pediatrics·Donatella MilaniSusanna Esposito
May 29, 2016·Fertility and Sterility·UNKNOWN Practice Committee of the American Society for Reproductive Medicine. Electronic address: ASRM@asrm.org, UNKNOWN Practice Committee of the American Society for Reproductive Medicine
Oct 13, 2017·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·A LudwinE Saridogan

❮ Previous
Next ❯

Citations

Oct 17, 2020·American Journal of Medical Genetics. Part a·Pui Tak YuIvan F M Lo
Jul 3, 2021·Genes·Julien Van GilsDidier Lacombe

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

American Journal of Diseases of Children
B RohlfingE B Singleton
Ginecología y obstetricia de México
Beatriz Rojas Pérez-EzquerraCristina Tabuenca Vicén
© 2022 Meta ULC. All rights reserved