Hirschsprung disease with Edward syndrome: A rare association: A case report.

International Journal of Surgery Case Reports
Bibek Man ShresthaDinesh Prasad Koirala

Abstract

Edward's syndrome (ES) occurs as a result of trisomy of chromosome 18 and is associated with multisystem congenital anomalies. The association of ES with various gastrointestinal malformations but Hirschsprung disease (HD) is well documented. A female infant on her 5th day of life presented with episodes of bilious vomiting along with abdominal distension and no passage of stool. The child had a small head and prominent occiput, low set abnormal ears, small jaw, upturned nose, widely spaced eyes, small neck with widely spaced nipples, clenched hands with overlapping fingers, flexed big toe, and prominent heels. Edward syndrome is associated with multisystem congenital abnormalities of which gastrointestinal abnormalities make up the most part. The condition can be identified by fetal ultrasound screening. Surgical correction of associated congenital anomalies at different times along with lifelong supportive management is important. Edward syndrome can present as Hirschsprung disease as a part of associated gastrointestinal Malformation. Often, early identification and termination of the pregnancy in antenatal life can reduce the suffering. Surgical correction of associated anomalies along with supportive care forms the corners...Continue Reading

References

Mar 17, 2004·The American Journal of Cardiology·Eric M GrahamUNKNOWN Pediatric Cardiac Care Consortium
Oct 30, 2007·Journal of Medical Genetics·J AmielUNKNOWN Hirschsprung Disease Consortium
Jul 1, 1948·Archives of Internal Medicine·F R WHITEHOUSE, J W KERNOHAN
Apr 17, 2008·American Journal of Medical Genetics. Part a·Yukihiro KanekoTadashi Kawakami
Oct 24, 2012·Orphanet Journal of Rare Diseases·Anna Cereda, John C Carey
Apr 26, 2013·Current Opinion in Pediatrics·Jacob C Langer
May 10, 2013·São Paulo Medical Journal = Revista Paulista De Medicina·Rafael Fabiano Machado RosaGiorgio Adriano Paskulin
Oct 12, 2014·American Journal of Obstetrics and Gynecology·Wilmar SaldarriagaJavier Fonseca
Mar 6, 2016·JAAPA : Official Journal of the American Academy of Physician Assistants·Holly L GreenMary Austin
Jul 7, 2018·Journal of Perinatology : Official Journal of the California Perinatal Association·Alaina K PyleMark R Mercurio
Dec 10, 2019·European Journal of Pediatrics·Agustín SilberbergJosé Manuel Moreno Villares
Nov 13, 2020·International Journal of Surgery·Riaz A AghaUNKNOWN SCARE Group

❮ 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

Current Problems in Surgery
Roshini Dasgupta, Jacob C Langer
Geka chiryo. Surgical therapy
T Kimura, N Satomura
Pediatrics in Review
C Rudolph, L Benaroch
Ryōikibetsu shōkōgun shirīzu
R Kato
Geka chiryo. Surgical therapy
T HayashidaT Kitamura
© 2021 Meta ULC. All rights reserved