Results 71 to 80 of about 11,531 (208)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 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

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

Implementation and Performance of First‐Trimester Referral Ultrasound Scan Following the Introduction of National Guidelines

Journal of Clinical Ultrasound, Volume 54, Issue 6, Page 1335-1348, July/August 2026.
The expert assessment of fetal anatomy before 14 weeks is feasible when adopting a standardized protocol and allows an early diagnosis in most cases at risk for fetal anomaly following first trimester screening ultrasound. ABSTRACT Background To report the implementation across Fetal Medicine units and the agreement between first and second trimester ...
Grazia Volpe, Laura Sarno, Elena Mantovani, Daniele Di Mascio, Valentina D'Ambrosio, Tiziana Fanelli, Ilaria Fantasia, Gian Piero Minnella, Paola Quaresima, Enrico Corno, Andrea Dall'Asta, on behalf of the SIEOGiovani Committee of the Italian Society of Ultrasound in Obstetrics and Gynecology (SIEOG)   +11 more
wiley   +1 more source

Prenatal detection and outcome of major heart defects in a country with universal screening

Ultrasound in Obstetrics &Gynecology, Volume 68, Issue 1, Page 44-50, July 2026.
ABSTRACT Objective To evaluate the Danish prenatal screening program for major fetal congenital heart defects (mCHD), focusing on incidence, detection rates (DRs), pregnancy outcomes and postnatal mortality. Methods This was a 5‐year nationwide cohort study conducted from January 2018 to December 2022 in Denmark.
C. Vedel, J. Steensberg, O. B. Petersen, H. Andersen, M. Barbosa, M. Christiansen, V. Gjørup, A. N. Jensen, K. Munk, K. Nyborg, A. W. Olesen, F. Ravn, L. Sperling, H. G. H. Thyregod, N. Vejlstrup, C. K. Ekelund   +15 more
wiley   +1 more source

Persistent Fifth Aortic Arch Associated with 22q11.2 Deletion Syndrome

, 2008
Background: Chromosome 22q 11.2 deletion is frequently associated with conotruncal malformations and aortic arch anomalies. This study investigated the association of chromosome 22q 11.2 deletion with clinical manifestations in four pediatric patients ...
李孟倫;陳曉能;陳明;曹龍彥;王寶田;李美慧;邱英世, LEE, MENG-LUEN;CHEN, HSIAO-NENG;CHEN, MING;TSAO, LON-YEN;WANG, BAO-TYAN;LEE, MEI-HUI;CHIU, ING-SH   +1 more
core  

How to facilitate ultrasound examination of the fetal heart: the 5‐4‐3‐2‐1 method

Ultrasound in Obstetrics &Gynecology, Volume 68, Issue 1, Page 124-129, July 2026.
ABSTRACT We propose a new standardized, systematic method of fetal cardiac screening, the step‐by‐step ‘5‐4‐3‐2‐1’ method. This method is based on understanding the cardiac structures through a process of navigating between the different recommended views during an abdominothoracic sweep, following a user‐friendly checklist to identify the main ...
M. Levy, B. Stos
wiley   +1 more source

Adult interrupted aortic arch with aortic regurgitation: Single-stage repair

Heart India, 2020
Adult patients with interruption of the aorta are an extremely rare occurrence. It is commonly associated with additional cardiovascular anomalies. Surgery is the mainstay in the management of the patients.
Chandra Prakash Srivastava, Ranajit Beeranna Naik, Sunil Sharma, Pradeep Kumar Goyal   +3 more
doaj   +1 more source

Three-dimensional printing for perioperative planning of complex aortic arch surgery

, 2014
Purpose In this study, we show the use of three-dimensional printing models for preoperative planning of surgery for patients with complex aortic arch anomalies.
Hagl, Christian, Schmauss, Daniel, Juchem, Gerd, Weber, Stefan, Sodian, Ralf, Gerber, Nicolas   +5 more
core   +1 more source

A Clinical Case of Aneurysmal Dilatation of the Aortic Arch Distal to the Origin of an Aberrant Right Subclavian Artery Treated with Castor Single-Branch Stent Graft Implantation and Right Carotid-Subclavian Bypass

Journal of Cardiovascular Development and Disease
Advancements in endovascular stent graft design have enabled the treatment of distal aortic arch pathologies. However, the length of the proximal landing zone remains a limitation, especially with vascular anomalies like an aberrant right subclavian ...
Antonio Rizza, Silvia Di Sibio, Angela Buonpane, Giancarlo Trimarchi, Marta Casula, Michele Murzi, Pierandrea Farneti, Cataldo Palmieri, Marco Solinas, Sergio Berti   +9 more
doaj   +1 more source