Results 111 to 120 of about 44,061 (253)

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, Volume 110, Issue 4, Page 480-486, October 2026.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source

“Accidental” Diagnosis of a Silent Giant Hydronephrosis

Journal of Urological Surgery, 2018
Giant hydronephrosis is defined as the presence of more than 1000 mL of fluid in the collecting system. While usually affecting children, uncommonly, adults may be affected, and it can be mistakenly diagnosed as a tumor. We present a case of silent giant
Mohamad Syafeeq Faeez Md Noh, Anna Misyail Abdul Rashid   +1 more
doaj   +1 more source

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1 ‐Related Noonan Syndrome

Clinical Genetics, Volume 110, Issue 4, Page 502-507, October 2026.
This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska, Barbara Kalina‐Faska, Ewa Błaszczyk, Aneta Gawlik‐Starzyk   +3 more
wiley   +1 more source

[Fetal hydronephrosis]

, 1991
Antental intervention in cases where the foetus was suspected of having hydronephrosis has been the subject of intense discussion in recent years where the diagnosis was technically possible.
Osther, P J; id_orcid, Thybo, E, Seleman, Tove Vibeke Agertoft   +2 more
core   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Risk factors associated to urinary infection in patients with high grade antenatal hydronephrosis

Revista de Nefrología, Diálisis y Trasplante, 2017
Introduction: The high incidence of urinary infection in patients with high-grade antenatal hydronephrosis has led us to recommend antibiotic prophylaxis.
Laura F. Alconcher, María M. Tombesi, Lucas I. Lucarelli   +2 more
doaj  

Robotic‐assisted laparoscopic ureteral reimplantation using the LUAA technique: VCUG‐confirmed outcomes, learning curve and CUSUM analysis

BJUI Compass, Volume 7, Issue 9, September 2026.
Abstract Objective To delineate the learning curve of robotic‐assisted laparoscopic ureteral reimplantation (RALUR) through the LUAA extravesical technique, we characterized efficacy and safety outcomes throughout surgical proficiency development using cumulative sum (CUSUM) analysis and perioperative trifecta outcomes.
Daniel Fu, Priyank Yadav, Jorge Arias, David Kim, Mohan Saheb Gundeti   +4 more
wiley   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, Volume 92, Issue 9, Page 3037-3048, September 2026.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

Clinical Benefit of Pembrolizumab in Lynch Syndrome‐Associated Advanced Ovarian Cancer With Germline MSH6 Variant: A Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT This case highlights the importance of genetic evaluation during treatment in young patients with advanced ovarian cancer. Lynch syndrome caused by a germline MSH6 pathogenic variant was diagnosed during first‐line maintenance therapy, and pembrolizumab achieved a durable response in recurrent disease.
Tomomi Yokozawa, Sayako Nakagawa, Yukio Suzuki, Aya Tokinaga‐Uchiyama, Katsuyuki Konnai, Hiroto Narimatsu, Yukihiko Hiroshima, Haruya Saji   +7 more
wiley   +1 more source

Giant Fetal Sacrococcygeal Teratoma: Prenatal Detection, Monitoring, and Postnatal Management—A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Sacrococcygeal teratoma (SCT) is a rare congenital tumor arising from pluripotent cells at the base of the coccyx and is most often detected during antenatal imaging. In this case, a massive SCT was identified at 26 + 2 weeks during routine ultrasound.
Tandin Om, Chimi Lhaky Zam, Karma Sherub, Phurb Dorji   +3 more
wiley   +1 more source