Results 51 to 60 of about 168,194 (116)

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

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

Bladder exstrophy-epispadius complex. An overview of anaesthetic management [PDF]

, 2017
Introduction The anaesthetic management of urinary bladder exstro- phy-epispadius complex is challenging. This paper de- scribes our experience of fifteen children operated in a workshop. Purpose We evaluated use of continuous caudal epidural infusion
S. R. Engineer, N. B. Solanki
core   +2 more sources

An investigation into the psychological impact of bladder exstrophy [PDF]

, 2001
Bladder exstrophy is a congenital urological disorder, which affects the development of the bladder, genitals and pelvis. Patients undergo a series of operations throughout childhood to construct a continent bladder, which functions normally or requires ...
Wilson, Christine
core   +1 more source

Oblique pelvic osteotomy in the treatment of bladder exstrophy in neonates

, 2019
Bladder exstrophy is a congenital and rare malformation of the lower abdominal wall with exposure of the bladder mucosa to the external environment, and it is related to pelvis abnormalities.
Zaccara A. M., Careri S., Bagolan P., Guzzanti V., Toniolo R. M., Giordano M., Di Lazzaro A.   +6 more
core   +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

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

One - staged reconstruction of bladder exstrophy in male patients: long - term follow-up outcomes

International Brazilian Journal of Urology
Introduction The surgical correction of bladder exstrophy remains challenging. In our institution, the repair has evolved from a staged repair to one-stage reconstruction.
Amilcar Martins Giron, Marcos Figueiredo Mello, Paulo Afonso Carvalho, Paulo Renato Marcelo Moscardi, Roberto Iglesias Lopes, Miguel Srougi   +5 more
doaj   +1 more source

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

American 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, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +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

Indian 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