Duplex collecting system is a congenital genitourinary anomaly commonly found incidentally. Our experience with a duplex system associated with giant hydroureter presenting as mobile abdominal swelling that was noticed from birth, constipation, and failure to thrive is described. Ultrasound and IVU did not assist in making the diagnosis, while a barium enema suggested a colonic duplication. Congenital giant hydroureter should be considered as a differential diagnosis in infants with cystic abdominal swelling. A preserved renal moiety attributed to a dilated ureteric cistern was a unique theory in this case.
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http://dx.doi.org/10.1155/2013/652890 | DOI Listing |
Eur J Med Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, The Technion, Haifa, Israel. Electronic address:
Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency and dysmorphic features, while ectopic pituitary gland and various congenital anomalies have also been described.
View Article and Find Full Text PDFJ Surg Case Rep
January 2025
Department of Surgery, School of Medical Sciences, Kwame Nkrumah University of Science and Technology, P.O. Box Up 1279, Kumasi, Ghana.
Persistent ascending mesocolon (PAM) is a rare congenital anomaly in ⁓2%-4% of individuals. PAM is associated with various complications, including volvulus of the colon and caecum, bowel perforation, intestinal obstruction, and adhesions. This case is reported on a 48-year-old woman who reported to the Ho Teaching Hospital specialist clinic with a 13-year history of initial painless and reducible paraumbilical swelling.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Introduction: Pathogenic variants in the gene are linked to a spectrum of syndromes that exhibit partial clinical overlap. Hemizygous loss-of-function variants are considered lethal in males, while heterozygous loss-of-function variants generally result in oro-facial-digital syndrome type 1. A reported phenotype, Simpson-Golabi-Behmel syndrome type 2, was published once but remains controversial, with many specialists questioning its validity and arguing about its continued listing in the OMIM database.
View Article and Find Full Text PDFCureus
December 2024
Cardiovascular Surgery, Kawasaki Municipal Hospital, Kawasaki, JPN.
A 40-year-old male visited our clinic for cardiac evaluation. He had palpitations for several years, but the reason was unknown. Transthoracic echocardiography revealed a hyperechoic ribbon-shaped structure that moved vigorously in the right atrium.
View Article and Find Full Text PDFJPRAS Open
March 2025
Department of Plastic and Aesthetic Surgery, Tra Vinh University, Tra Vinh, Vietnam.
The eyebrow plays a crucial role in facial aesthetics and expression. Reconstructing an eyebrow defect remains a challenge due to the unique characteristics of eyebrow hair. While various advanced methods exist, we report the first documented use of a free superficial temporal artery flap for total eyebrow reconstruction.
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