Results 51 to 60 of about 1,990 (191)

Preduodenal Portal Vein And Polysplenia: A Case Report and Review Of Literature [PDF]

, 2022
Preduodenal portal vein (PDPV) is a rare anomaly in which the portal vein courses anterior to the second part of the duodenum. PDPV is often associated with other congenital anomalies such as polysplenia, malrotation and pancreatic anomalies.
Bamberger, P. Kurt, Qatanani, Anas, Malat, Jaclyn, McCarley, Saudia M, Jaclyn Malat, Anas Qatanani, Saudia McCarley, P. Kurt Bamberger   +7 more
core   +1 more source

Exploring the Differential Diagnosis of Adrenal Adenoma in the Context of Situs Ambiguous: A Clinical Case Study

Medicina
Situs anomalies, including situs inversus and situs ambiguous (SAMB), are rare congenital conditions typically noted in pediatric populations, with SAMB being particularly uncommon in adults.
Pavel E. Stanchev, Mariya Dimitrova, Desislava Makakova, Boris Tilov   +3 more
doaj   +1 more source

Malrotation and volvulus associated with heterotaxy syndrome

Journal 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, Sanat Khanna, Prema Menon   +2 more
doaj   +1 more source

Persistent Mullerian Duct Syndrome with Polysplenia and Short Pancreas: A Case Report [PDF]

, 2019
Persistent Mullerian duct syndrome is a rare entity and usually presents with common symptoms of undescended testis and hernia. The syndrome is caused by an insufficient amount of Mullerian inhibiting substance or due to the insensitivity of the target ...
Dinesh Kumar Thapa, Amit Kumar Shah, Umesh Kumar Sharma, Dinesh Pokhrel   +3 more
core   +1 more source

Polysplenia syndrome in adulthood: A case report of incidental discovery

Radiology Case Reports
The Polysplenia Syndrome (PSS) is a form of heterotaxy, a rare congenital anomaly with an estimated incidence of 1 in 250,000 live births, first described by Helwig in 1929.
Jihane El Houssni, Sanae Jellal, Ismail Neftah, Fariss Dehayni, Siham El Haddad, Nazik Allali, Latifa Chat   +6 more
doaj   +1 more source

Polysplenia and jejunal atresia with agenesis of the dorsal mesentery.

, 1989
Polysplenia syndrome has been well described. It is associated with gastrointestinal atresia in patients with situs inversus abdominus; however, it appears that this case represents the first occurrence of polysplenia with jejunal atresia having agenesis
Barber, G A, Whalen, Thomas V, MD, Moore, G   +2 more
core   +1 more source

Clinical and Genetic Study of a Pseudo‐Dominant Primary Ciliary Dyskinesia Pedigree: The First DNAAF1‐Associated Family Reported in Chinese Population

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We report pseudo‐dominant PCD inheritance in a Chinese family due to novel DNAAF1 mutations. Affected members across two generations showed significant variability in lung disease progression and visceral arrangement. ABSTRACT Background Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder typically inherited in an autosomal ...
Zhuoyao Guo, Ping Li, Gaoli Jiang, Weicheng Chen   +3 more
wiley   +1 more source

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1452-1457, June 2026.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Polysplenia with situs inversus totalis, azygos continuation of the inferior vena cava, and duplication of the superior vena cava in a healthy adult: A case report

Radiology Case Reports
Polysplenia syndrome is an embryological disorder whereby the usual left-right asymmetry of thoracic and abdominal viscera fails to develop. It is a rare entity, estimated to occur at a frequency of 1 in 40,000, and is often associated with cardiac and ...
Rahman Ladak, HBSc, William Magnuson, MD
doaj   +1 more source

Current Topics of Progressive Cardiac Conduction Disease

Journal of Arrhythmia, Volume 42, Issue 3, June 2026.
Many genes and the protein cause PCCD. Mutation of NaV1.5 or CX40 cause isolated PCCD, but mutation of lamin A/C, emerin, or desmin lead to cardiomyopathy, and PCCD. Mutation of transcription factor NCX2‐5, and Tbx5 associated with atrial septal defect and abnormal development of conduction system.
Naokata Sumitomo, Hitoshi Mori, Takashi Kumamoto, Taisuke Ishikawa, Akiko Seki, Naomasa Makita, Jean‐Jacques Schott, Arthur A. M. Wilde   +7 more
wiley   +1 more source