Results 41 to 50 of about 16,503 (187)

Diphallia as the first sign of a polymalformative syndrome

Journal of Pediatric and Neonatal Individualized Medicine, 2023
Diphallia or penile duplication is a rare anomaly, with an estimated prevalence of 1 in every 5.5 million live births. It may present alone or associated with other penile or abdominal malformations, such as renal and anorectal anomalies.
Cláudia Correia, Mario Rui Correia, Rute Vaz, João Ribeiro-Castro, Sara Peixoto   +4 more
doaj   +1 more source

Unusual association between cardiac, skeletal, urogenital and renal abnormalities [PDF]

BMJ Case Reports, 2016
We present a 33-year-old woman with an array of congenital abnormalities. She has been diagnosed with polycystic kidney disease (PCKD) with no detectable mutations in PKD1 or PKD2, spina bifida occulta, thoracic skeletal abnormalities, a uterus didelphys and a patent foramen ovale (PFO).
Maria, Goryaeva, Mark Christopher, Sykes, Benjamin, Lau, Simon, West   +3 more
openaire   +2 more sources

Multiparametric Ultrasound Findings of Testicular Sarcoidosis

Journal of Ultrasound in Medicine, EarlyView.
Objectives To characterize the multiparametric ultrasound (MPUS) features of testicular sarcoidosis, incorporating greyscale, color Doppler ultrasound (CDUS), contrast‐enhanced ultrasound (CEUS), and strain elastography (SE), and to assess their collective diagnostic value.
Huahui Liu, Razan Abudalo, Ghali Salahia, Gibran T. Yusuf, Dean Y. Huang, Paul S. Sidhu   +5 more
wiley   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

Congenital prepubic sinus: Rare diagnosis with unclear etiology

Journal of Pediatric Surgery Case Reports, 2016
The congenital prepubic sinus is a rare type of fistula with a broad range of anatomical and histological diversity. We report the case of an 8-month-old boy with a congenital prepubic sinus where immunohistochemistry studies showed only squamous ...
Gabriel Nonnenmacher, Dieter Rhein, Steffan Loff   +2 more
doaj   +1 more source

Diphallia: a case report of a rare anomaly evaluated by magnetic resonance imaging

The Turkish Journal of Pediatrics, 2021
Background. Diphallus, also known as penile duplication, is a rare malformation, seen once in every 5 to 6 million births. Newborns showing this condition present higher mortality rates due to malformations and infections.
Márcio Luís Duarte, Lucas Ribeiro Dos-Santos, André Silva, Marcelo Silva   +3 more
doaj   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Abdominal and Pelvic Anomalies

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective(s) This study aims to document the abdominal and pelvic anomalies that can be demonstrated using post mortem Micro‐CT, independent of whether the anomaly contributed to the main diagnosis or cause of death. Methods We retrospectively analyzed 1200 whole body post‐mortem fetal Micro‐CT scans in an unselected, consecutive cohort ...
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Retroperitoneoscopic surgery with extracorporeal uretero-ureteral anastomosis for treating retrocaval ureter

International Brazilian Journal of Urology, 2005
We present a case of retrocaval ureter featuring laparoscopic technique treatment using extraperitoneal access and extracorporeal suture of the ureteral stumps. Surgical time was 130 minutes, and the anastomosis was performed in 40 minutes. There were no
M. Tobias-Machado, Marco T. Lasmar, Eric R. Wroclawski   +2 more
doaj   +1 more source

Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype‐Specific Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To explore potential genetic contributors across different subtypes of isolated neural tube defects (NTDs) ‐ acrania–exencephaly–anencephaly sequence (AEAS), spinal dysraphism, and encephalocele ‐ using exome sequencing (ES) in a prenatal cohort, with the goal of gaining insight into the molecular diversity underlying these distinct ...
Adi Botvinik, Vered Offen Glasner, Adi Reches, Hadas Miremberg, Karina Krajden Haratz, Tal brill, Liron Malki, Michal Rozenzwaig, Yuval Yaron, Michal Levy   +9 more
wiley   +1 more source

Urogenital Abnormalities Associated With Imperforate Anus

Eurasian Journal of Medicine, 2019
-
Durkaya Ören, Ertuğrul Ertaş, Müfide N. Akçay, K. Yalçın Polat, Davut Balcı   +4 more
doaj