Results 41 to 50 of about 3,610 (202)

A Case Study: Bladder Exstrophy

open access: yes, 2022
This article discusses a case study of a rare congenital anomaly known as bladder exstrophy. The bladder is formed outside of the abdomen during fetal development and is typically accompanied by other defects of the abdomen, genitals, and pelvis.
Haughey, Lexi
core  

Management of Azoospermia: A Systematic Approach

open access: yesThe Obstetrician &Gynaecologist, EarlyView.
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   +3 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

Alternative management of bladder exstrophy

open access: yes, 2009
PURPOSE OF REVIEW: Recent long-time outcome studies of patients with bladder exstrophy treated with primary urinary diversions or primary reconstruction force pediatric urologists to reassess the place of alternative management options in the ...
Gobet, R
core   +1 more source

Essential embryology for the Canadian pathologists’ assistant

open access: yesAnatomical Sciences Education, Volume 19, Issue 7, Page 1134-1156, July 2026.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci   +4 more
wiley   +1 more source

Pseudo-Exstrophy of Bladder with Unilateral Renal Agenesis: A Rare Combination of two Anomalies [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2016
Pseudo-exstrophy of bladder is an uncommon condition characterized by the major musculoskeletal defects without urinary system defects. A two-day-old female neonate was presented with pseudo-exstrophy of the bladder and unilateral renal agenesis- A rare
Abdolhamid Amouei   +3 more
doaj   +1 more source

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

open access: yesClinical 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   +9 more
wiley   +1 more source

Corrected bladder exstrophy- Caesarean birth

open access: yes, 2019
Case Summary: We present a case of 26 yrs old Primigravida, who presented at the antenatal clinic of Kenyatta National Hospital at 20 weeks gestation, she was a known case of congenital bladder exstrophy.
Maranga, I.S.O.   +3 more
core   +2 more sources

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR ‐Gene Family

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1286-1305, June 2026.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld   +9 more
wiley   +1 more source

A rare case of OEIS complex –newer approach to diagnosis of exstrophy bladder by color doppler and its differentiation from simple omphalocele

open access: yesIndian Journal of Radiology and Imaging, 2017
The objective of this article is to present a new approach to diagnose and differentiate similar ventral masses by color Doppler. Two cases of ventral masses, a rare case of OEIS complex (Omphalocele-exstrophy-imperforate anus-spinal defects) with ...
Kavita Aneja
doaj   +1 more source

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