Results 51 to 60 of about 1,338 (153)

Coincidence of Polysplenia, Kartagener Syndrome, Dorsal Pancreas Agenesis, and Polycystic Kidney Disease in an Adult

open access: yesEurasian Journal of Medicine, 2019
Here we present the case of an adult male patient with the anomalies of polysplenia, Kartagener syndrome, dorsal pancreas agenesis, and adult polycystic kidney disease.
Mustafa Kemal Demir, Yavuz Furuncuoglu
doaj   +1 more source

Left Isomerism With Normal Bronchopulmonary Anatomy: Broadening the Heterotaxy Spectrum

open access: yesCase Reports in Radiology, Volume 2025, Issue 1, 2025.
Situs ambiguous is a rare congenital condition characterized by the abnormal arrangement of thoracoabdominal organs along the left–right axis. This condition often presents as either left or right isomerism, leading to complex anatomical variations and associated clinical challenges.
Zach Sukin   +5 more
wiley   +1 more source

Fetal Presentation of MYRF‐Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis

open access: yesPrenatal Diagnosis, Volume 44, Issue 13, Page 1647-1658, December 2024.
ABSTRACT Purpose MYRF‐related cardiac‐urogenital syndrome (MYRF‐CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF‐CUGS phenotype is mostly based on postnatal cases and 36 affected individuals have been published so far.
Maud Favier   +34 more
wiley   +1 more source

Retrospective Cohort Study of Associated Factors for Intestinal Complications in Pediatric Liver Transplantation

open access: yesPediatric Transplantation, Volume 28, Issue 8, December 2024.
Intestinal complications (IC) are significant adverse events following liver transplantation (LT), yet research on pediatric cohorts remains limited. This study aims to describe IC in children after LT and identify factors associated with their occurrence.
Sindy Pires   +4 more
wiley   +1 more source

Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype

open access: yesMolecular Genetics & Genomic Medicine, 2020
Background There are few reports describing the proximal deletions of the short arm of chromosome 20, making it difficult to predict the likely consequences of these deletions.
Idris Mohammed   +7 more
doaj   +1 more source

Introduction of transcatheter edge‐to‐edge repair in patients with congenital heart disease at a children's hospital

open access: yesCatheterization and Cardiovascular Interventions, Volume 103, Issue 2, Page 326-334, February 1, 2024.
Abstract Background Atrioventricular valve regurgitation (AVVR) is a devastating complication in children and young adults with congenital heart disease (CHD), particularly in patients with single ventricle physiology. Transcatheter edge‐to‐edge repair (TEER) is a rapidly expanding, minimally invasive option for the treatment of AVVR in adults that ...
Matthew A. Jolley   +17 more
wiley   +1 more source

Polysplenia syndrome associated to neonatal hepatitis

open access: yesJornal de Pediatria, 1998
OBJECTIVE: To report the unusual association between neonatal hepatitis and polysplenia syndrome.METHODS: Clinical, biochemical, histopathological, surgical and image analysis methods were used.RESULTS: The 36 days old patient presented hyperbilirubinemia with increase of direct reacting bilirubin and high alkaline phosphatase. The physical examination
J L, Santos   +3 more
openaire   +2 more sources

Congenital lobar emphysema associated with polysplenia syndrome

open access: yesAnnals of Saudi Medicine, 2010
Polysplenia, or left isomerism, is a rare heterotaxy syndrome characterized by bilateral bi-lobed lungs, bilateral pulmonary atria, a symmetrical midline liver, and multiple aberrant splenic nodules.
Choh Naseer   +3 more
doaj  

Malrotation and volvulus associated with heterotaxy syndrome

open access: yesJournal of Indian Association of Pediatric Surgeons, 2012
A 2-year-old boy with heterotaxy syndrome with associated polysplenia, ventricular septal defect, and malrotation of gut with volvulus is presented. There was delay in diagnosis due to the unusual plain abdominal radiography findings.
Santosh K Mahalik   +2 more
doaj   +1 more source

Ivemark syndrome: asplenia with kidney collecting duct cysts and polysplenia with cerebellar cyst

open access: yesThe Turkish Journal of Pediatrics, 2000
Two newborns, one male and one female, from two different families, with Ivemark syndrome proven at autopsy are reported. One of them had asplenia and another had polysplenia.
V Krźelj   +5 more
doaj  

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