Results 71 to 80 of about 22,740 (218)
International Journal of Gynecology &Obstetrics, EarlyView.
Mariana Correia Moreira Cruz +5 more
wiley +1 more source
Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network
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 +23 more
wiley +1 more source
Uterus didelphys with blind hemivagina and ipsilateral renal agenesis (Herlyn Werner-Wunderlich Syndrome) is a rare congenital anomaly. It mostly presents with severe dysmenorrhea and a palpable mass due to unilateral hematocolpos.
Gaurav Jindal +3 more
doaj +1 more source
ABSTRACT Background Major congenital anomalies (CA) affect 2.3% of livebirths and are associated with lower educational attainment. Understanding attainment trajectories throughout primary school would inform parents, schools and organisations and help plan support.
Joachim Tan +11 more
wiley +1 more source
Myelomeningocele with Unilateral Right Renal Agenesis: A Case Report
Congenital anomalies of the spine may occur with malformations of the central nervous, cardiovascular, gastrointestinal, respiratory, and genitourinary systems. This is a case of myelomeningocele with unilateral right renal agenesis in a newborn.
Hajime Maeda +6 more
doaj +1 more source
Expanding congenital abnormalities of the kidney and urinary tract (CAKUT) genetics: basonuclin 2 (BNC2) and lower urinary tract obstruction [PDF]
his work was supported by FIS PI16/02057, PI19/00588, PI19/00815, DTS18/00032, REDinREN RD016/0009 Fondos FEDER, ERA-PerMed-JTC2018 (KIDNEY ATTACK AC18/00064 and PERSTIGAN AC18/00071), Sociedad Española de Nefrología, FRIAT, and Comunidad de Madrid B2017/
Fernández Prado, Raúl +3 more
core +1 more source
Abstract The clinical application of prenatal exome sequencing (pES) for fetal structural anomalies is relatively new. Although a prenatal genetic diagnosis has been shown to have high clinical and personal utility for families, nearly 70% of pregnancies undergoing pES will receive nondiagnostic results.
Sophie Albert +4 more
wiley +1 more source
Sirenomelia, the Mermaid syndrome: case report and a brief review of literature [PDF]
Sirenomelia, the Mermaid Syndrome is a rare and lethal congenital anomaly with an incidence of one in 60,000 to 70,000 pregnancies. Sirenomelia is characterized by complete fusion of the lower limbs, commonly associated with renal agenesis, absent ...
Munim, Shama, Sikandar, Rozina
core +1 more source
Malformações Müllerianas: revisão da abordagem atual [PDF]
The aim of this paper was to discuss the embryological aspects of Müllerian duct anomalies and to analyze the current diagnostic methods and therapy. Müllerian anomalies are congenital defects of the female reproductive tract resulting from failure in ...
RIBEIRO, Sérgio Conti +6 more
core +2 more sources

