Results 61 to 70 of about 736,585 (190)

Obstructed Hemivagina and Ipsilateral Renal Anomaly Syndrome Rare Obstructive Uterovaginal Anomaly: A Case Report

Journal of Nepal Medical Association, 2020
Obstructed Hemivagina and Ipsilateral Renal Anomaly syndrome is a rare obstructive uterovaginal anomaly involving both mesonephric and paramesonephric ducts. It usually presents after menarche with non-specific symptoms like pelvic pain, dysmenorrhea, or
Tulasa Basnet, Tarun Pradhan, Punita Yadav, Manoj Kumar Sah, Jyotsna Yadav, Yashaswi Rai, Rashmi Thapa   +6 more
doaj   +1 more source

Magnetic resonance imaging in patients of Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome presenting with primary amenorrhoea: a prospective study

The Egyptian Journal of Radiology and Nuclear Medicine, 2023
Background This study aims to characterize the spectrum of imaging findings in patients of Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome presenting with primary amenorrhoea. Objectives (1) To aid in clinical diagnosis of MRKH syndrome. (2) To detect the
Sakshi Jaiswal, Umakant Prasad, Ruchi Gupta, Manisha Kumari   +3 more
doaj   +1 more source

Clinical and Genetic Spectrum of Filippi Syndrome: A Systematic Review of Published Case Reports and Case Series

Health Science Reports, Volume 9, Issue 7, July 2026.
ABSTRACT Background and Aims Filippi syndrome is a very rare autosomal recessive craniodigital disorder primarily caused by mutations in the gene CKAP2L, characterized by syndactyly, microcephaly, growth retardation, distinctive craniofacial features, and intellectual disability.
Muhammad Anas Faheem, Laraib Ghanghro, Ayesha Khan, Maryam Khalid, Salwa Bashir, Dania Iqbal, Adan Ali, Hussain Haider Shah, Sameer Abdul Rauf, Humaira Kalam   +9 more
wiley   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, Volume 110, Issue 1, Page 64-72, July 2026.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

A variant of Zinner syndrome with ectopic ureteral insertion into the seminal vesicle

Radiology Case Reports
Zinner syndrome comprises a triad of unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction, which can be accompanied by additional abnormalities of the genitourinary tract in some cases.
Ali Al-Smair, MD, Muhannad M. Mahmoud, MD, Murad T. Attal, MD, Israa N. Alzawawi, MD   +3 more
doaj   +1 more source

Management of Azoospermia: A Systematic Approach

The Obstetrician &Gynaecologist, Volume 28, Issue 3, Page 155-167, July 2026.
ABSTRACT Key Content Work‐up of azoospermic men includes a detailed history, physical examination and investigations to find the underlying cause. Causes and management of azoospermia (pre‐testicular, testicular and post‐testicular) with case presentations.
Naimah Raza, Alex Grammatis, Philippa Sangster, Jackson Kirkman‐Brown   +3 more
wiley   +1 more source

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1362-1371, June 2026.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 more
wiley   +1 more source

Late presentation, MR imaging features and surgical treatment of Herlyn-Werner-Wunderlich syndrome (classification 2.2); a case report

BMC Women's Health, 2018
Background Herlyn-Werner-Wunderlich syndrome is a very rare congenital genitourinary anomaly characterized by uterus didelphys, blind hemivagina and ipsilateral renal agenesis. Case presentation Authors present a case of Herlyn-Werner-Wunderlich syndrome
Hidayatullah Hamidi, Nilab Haidary
doaj   +1 more source

Cat Eye Syndrome in a Sudanese Infant: Congenital Cataract in the Absence of Iris Coloboma: A Case Report

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT We report the first Cat Eye Syndrome case from Sudan: a 5‐month‐old female with growth retardation, craniofacial dysmorphism, congenital cataract without iris coloboma, and ventricular septal defect. Cytogenetics confirmed 47,XX,+idic(22)(q11.2).
Rayan Khalid, Imad Fadl‐Elmula
wiley   +1 more source

Proteinuria, hypertension and renal failure in a patient with unilateral renal agenesis [clinical conference]

, 1987
Proteinuria, hypertension and renal failure in a patient with unilateral renal agenesis [clinical ...
MASCHIO, Giuseppe, L. Oldrizzi, C. Rugiu, LUPO, Antonio   +3 more
core   +1 more source