Results 41 to 50 of about 736,585 (190)

Herlyn-Werner-Wunderlich syndrome presenting with infertility: Role of MRI in diagnosis

Indian Journal of Radiology and Imaging, 2013
Herlyn-Werner-Wunderlich syndrome (HWWS), characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis, is an uncommon combined Mullerian and mesonephric duct anomaly, and its presentation in adulthood is even rarer. We report
Zohra Ahmad, Ankur Goyal, Chandan J Das, Dipika Deka, Raju Sharma   +4 more
doaj   +1 more source

A Triad of Unilateral Renal Dysgenesis with Ipsilateral Seminal Vesical and Ejaculatory Duct Obstruction: An Uncommon Urogenital Congenital Anomaly, Zinner Syndrome—A Case Report

Indian Journal of Radiology and Imaging, 2021
Zinner syndrome is a rare congenital anomaly of the urogenital system resulting from an in utero insult during the first trimester. This entity comprises a triad of unilateral renal agenesis/dysgenesis with ipsilateral seminal vesical and ejaculatory ...
Rajani Gorantla, Sameera Allu, Ankamma Rao   +2 more
doaj   +1 more source

Potter’s Sequence with Bilateral Renal Agenesis and Congenital Pouch Colon with Rectovaginal Fistula: A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2019
Bilateral renal agenesis is an uncommon diagnosis of prenatal life. It is seen to be associated with many other congenital anomalies and is also seen in association with Potter's sequence.
PREETI RAI, REEMA BHUSHAN, RENU SINGH, MARIYA KHATOON ANSARI   +3 more
doaj   +1 more source

Anatomical–Motor Level Discrepancy in Prenatal Diagnosis of Open Spinal Dysraphism: A 12‐Year Retrospective Observational Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objectives To quantify the discrepancy between anatomical and motor levels in foetuses with open spinal dysraphism and identify prenatal factors associated with this difference. We also examined associations between anatomical level and ultrasound findings. Design Retrospective observational study.
Silvia Arévalo, Elena Moreno, Mar Meléndez, Carlos Giné, Carlota Rodó, Alba Casellas, Alba Farràs, Manel Mendoza, Nerea Maiz   +8 more
wiley   +1 more source

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

Clinical Genetics, EarlyView.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart, Michelle Gray, Roberta Sierra, Camille Maldonado, Daniel Brooks, Hongzheng Dai, Aaly Rahimtoola, Sandy Magallan, Sarah Rodriguez, Jose Gamez, Pattie Rosenlund, Surya N. Mulukutla, Alberto Allegre, Lori Berry, Brendan Lee, Daryl A. Scott, Blake Vuocolo, Seema R. Lalani   +17 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Genetic landscape of a neonatal hypogonadotropic hypogonadism series: Novel variants and phenotypic spectrum

Journal of Neuroendocrinology, Volume 38, Issue 10, October 2026.
Abstract To describe clinical presentation and genetic findings in a cohort of infants with congenital hypogonadotropic hypogonadism (CHH) diagnosed before 2 years of age. From a large cohort of patients who underwent next‐generation sequencing (NGS) for CHH between 2019 and 2025, we identified all patients tested at ≤2 years of age.
Karine Aouchiche, Laure Van Wormhoudt, Kevin Perge, Joanne Dornberger, Cindy Colson, Marine Delagrange, Clara Leroy, Jennifer Ledmazel, Vanessa Menut, Jessica Benarrous Jaillet, Djamel Bendifallah, Mohamad Hage Chehade, Christelle Dib, Anne Barlier, Thierry Brue, Rachel Reynaud, Alexandru Saveanu   +16 more
wiley   +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

A New Case of Herlyn–Werner–Wunderlich Syndrome: Uterine Didelphys with Unilateral Cervical Dysgenesis, Vaginal Agenesis, Cervical Distal Ureteral Remnant Fistula, Ureterocele, and Renal Agenesis in a Patient with Contralateral Multicystic Dysplastic Kidney

Diagnostics, 2021
The aim of this study was to present a new case of congenital Herlyn–Werner–Wunderlich syndrome, a rare anomaly of the female reproductive tract, and review the related literature.
Jin-Hee Yu, Sa-Ra Lee, Heayeon Choi, Kun-Suk Kim, Byung-Moon Kang   +4 more
doaj   +1 more source