Results 31 to 40 of about 362 (133)

Bladder exstrophy with exstrophic rectal duplication in an infant: An extremely rare case

African Journal of Paediatric Surgery, 2021
Exstrophic rectal duplication and its association with bladder exstrophy and anorectal malformation is an extremely rare clinical entity. This is a report of the second case of an exstrophic rectal duplication associated with bladder exstrophy in English
Levent Duman, Özkan Cesur, Mustafa Çagri Savas   +2 more
doaj   +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

Repair of Vesicocutaneous and Urethrocutaneous Fistulae with Rectus Muscle Flap in a Bladder Exstrophy Patient

Urology Case Reports, 2017
Urinary continence can be achieved in up to 90% of patients with bladder exstrophy. However, select patients remain incontinent despite modern reconstruction. Repeat operations for continence combined with the congenital pelvic abnormalities of exstrophy
Daniel A. Friedlander, Kathy M. Lue, Jason E. Michaud, John P. Gearhart, Richard J. Redett, Heather N. Di Carlo   +5 more
doaj   +1 more source

Transition of Care From Pediatric to Adult Services for Patients With Anorectal Malformations: A Qualitative Study

World Journal of Surgery, Volume 50, Issue 8, Page 2372-2379, August 2026.
Little is known about how patients with anorectal malformations (ARMs), their caregivers and healthcare providers perceive and experience transition from pediatric to adult care (transition of care) in low‐ and middle‐income countries. This study aimed to explore the perceptions and experiences of young adults, adolescents, their caregivers, and ...
Leila Hartford, Niveshni Maistry, Giulia Brisighelli, Juan Scribante   +3 more
wiley   +1 more source

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

American 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, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Bladder augmentation using a duplicated colonic segment in a patient with a skin-covered variant of classic bladder exstrophy: A case report

Urology Case Reports
Covered variant is a rare form of bladder exstrophy where a portion or all of the bladder is covered with skin. We present the longitudinal surgical care of a 12-year-old male with concomitant skin-covered exstrophy variant, bifid phallus, and an ...
Craig Cronin, Susanna Ezeh, Marjorie Johnson, Catherine Robey, Logan Galansky, Heather Di Carlo   +5 more
doaj   +1 more source

Anatomical and Functional Outcomes of Bladder Exstrophy Patients – A Single-Centre Indonesian Experience [PDF]

Malaysian Orthopaedic Journal
Introduction: Bladder exstrophy is an embryologic malformation characterised by a deficiency of the anterior midline, resulting in urogenital and skeletal complications.
Kurniawan A, Jonathan H, Wikanjaya R, Aryandhani LP   +3 more
doaj   +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical 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, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

Operation for Exstrophy of the Bladder [PDF]

The American Journal of the Medical Sciences, 1911
n ...
openaire   +2 more sources

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