Results 41 to 50 of about 2,592 (174)

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

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

Journal 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, Mohammad Baghi Yazdi, Fatemeh Ehsani, Mojtaba Babaei Zarch   +3 more
doaj   +1 more source

Recurrent Constellations of Embryonic Malformations (RCEM): Teratogenicity Linked to Transient Hypoxia and Hormone Pregnancy Tests Agrees With RCEM and Suggest a Reactive Oxygen Species Pathogenesis

Birth Defects Research, Volume 118, Issue 3, March 2026.
ABSTRACT Background No consistent genetic etiology has been found for a group of six different conditions in humans with multiple malformations called “recurrent constellations of embryonic malformations” (RCEM). Recent studies indicate hypoxia/reoxygenation and generation Reactive Oxygen Species (ROS) as an underlying mechanism for RCEM with the ...
Aaron P. Adam, Helen E. Ritchie, Margaret P. Adam, Bengt R. Danielsson   +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

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

Learning with Patient Campaigners About a German Drug Scandal**

Berichte zur Wissenschaftsgeschichte, Volume 49, Issue 1, Page 50-65, March 2026.
The West German drug Duogynon was internationally marketed as a “hormone pregnancy test” (HPT) between the 1950s and 1980s. In the late 1960s it came under suspicion for inducing miscarriage, spina bifida, and a spectrum of birth defects similar to those caused by the sedative thalidomide.
Jesse Olszynko‐Gryn, Anja Suter, Edmund Bolger, Birgit Nemec   +3 more
wiley   +1 more source

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

Paediatric and Perinatal Epidemiology, Volume 40, Issue 3, Page 414-425, March 2026.
ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman, Annie Perraud, Ester Garne, Ingeborg Barisic, David Tucker, Elisa Ballardini, Lea Bruneau, Clara Cavero‐Carbonell, Ianis Cousin, Miriam Gatt, Katya Kovacheva, Anna Latos‐Bielenska, Mary O'Mahony, Isabelle Monier, Isabelle Perthus, Riccardo Pertile, Anke Rissmann, Florence Rouget, Michelle Santoro, Joanna Sichitiu, Christine Verellen‐Dumoulin, Wladimir Wertelecki, Diana Wellesley, Joan K. Morris   +23 more
wiley   +1 more source

Prenatal Diagnosis to Postnatal Outcomes of Saccular Forms of Closed Spina Dysraphism: A Single Center Retrospective Study

Prenatal Diagnosis, Volume 46, Issue 2, Page 219-228, February 2026.
ABSTRACT Objective To describe prenatal imaging findings and postnatal outcomes in fetuses diagnosed with saccular forms of closed spinal dysraphism (CSD). Methods This retrospective single‐centre study included fetuses diagnosed with non‐genetic, non‐syndromic CSD between January 2018 and June 2023.
Yada Kunpalin, Jennifer Quon, Abby Varghese, Michael Chua, Samer Maher, Abhaya V. Kulkarni, Tim Van Mieghem, Shiri Shinar, Elka Miller   +8 more
wiley   +1 more source

The Impact of Chlamydia Treatment During Pregnancy on Birth Defects in New York State

Birth Defects Research, Volume 118, Issue 1, January 2026.
ABSTRACT Background Chlamydia trachomatis (CT) diagnoses are highest among females of reproductive age. Yet, little is known about adverse infant outcomes associated with treatment for CT infections during pregnancy, including birth defects. Methods Using de‐identified matched data from the New York State (NYS) Sexually Transmitted Infection ...
Elizabeth M. Boos, Meredith Howley, Tomoko Udo, Alexa Freedman, Wilson Miranda, Charles Gonzalez, Rachel Hart‐Malloy   +6 more
wiley   +1 more source

Undetected cases after implementation of first‐trimester anomaly scan in low‐risk population: insights from the IMITAS study

Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 1, Page 27-33, January 2026.
ABSTRACT Objective To assess the effectiveness of the first‐trimester anomaly scan (FTAS) performed as part of a centrally steered national screening program in The Netherlands by investigating false‐negative cases with a fetal structural anomaly that was not detected at the FTAS.
K. Bronsgeest, E. E. R. Lust, S. C. E. Zaaijer, L. Henneman, N. Crombag, C. M. Bilardo, R.‐J. H. Galjaard, E. Sikkel, A. K. K. Teunissen, M. N. Bekker, M. C. Haak, Collaborators, A. B. C. Coumans, A. Elvan‐Taşpınar, S. Galjaard, A. T. J. I. Go, E. van Leeuwen, G. T. R. Manten, E. Pajkrt   +18 more
wiley   +1 more source