Results 61 to 70 of about 277,988 (265)

TBX3‐ Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley   +1 more source

Le Cœur en Sabot: shape associations with adverse events in repaired tetralogy of Fallot

Journal of Cardiovascular Magnetic Resonance, 2022
Background Maladaptive remodelling mechanisms occur in patients with repaired tetralogy of Fallot (rToF) resulting in a cycle of metabolic and structural changes.
Anna Mîra, Pablo Lamata, Kuberan Pushparajah, Georgina Abraham, Charlène A. Mauger, Andrew D. McCulloch, Jeffrey H. Omens, Malenka M. Bissell, Zach Blair, Tyler Huffaker, Animesh Tandon, Sandy Engelhardt, Sven Koehler, Thomas Pickardt, Philipp Beerbaum, Samir Sarikouch, Heiner Latus, Gerald Greil, Alistair A. Young, Tarique Hussain   +19 more
doaj   +1 more source

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato, Naho Morisaki, Akinori Moriichi   +2 more
wiley   +1 more source

Percutaneous pulmonary valve implantation in a patient with congenitally corrected transposition of the great arteries: a case report

Journal of Medical Case Reports
Background Percutaneous pulmonary valve implantation has become an attractive method of dysfunctional right ventricle outflow tract treatment. Case presentation We describe a unique case of a 20-year-old Caucasian male patient with a complex cyanotic ...
Michal Kapalka, Michal Galeczka, Michal Krawiec, Roland Fiszer   +3 more
doaj   +1 more source

Risk of Congenital Heart Defects after Ambient Heat Exposure Early in Pregnancy

Environmental Health Perspectives, 2016
Background: Congenital heart defects may be environmentally related, but the association with elevated ambient temperature has received little attention. Objectives: We studied the relationship between outdoor heat during the first trimester of pregnancy
N. Auger, W. Fraser, R. Sauve, M. Bilodeau-Bertrand, T. Kosatsky   +4 more
semanticscholar   +1 more source

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips, Hagar Mor‐Shaked, Oded Shamriz, Raz Somech, Rawan Abu Omar, Smadar Eventov‐Friedman, Noa Ofek‐Shlomai, Dvorah Zaguer, Tamar Harel   +8 more
wiley   +1 more source

Quality of life in pediatric patients on a paracorporeal ventricular assist device with a novel mobile driving system

JHLT Open
Background: EXCOR ventricular assist device (VAD) is the gold standard circulatory support for children with end-stage heart failure. Until recently, the only available driving unit was the stationary Ikus.
Oliver Miera, Eugen Sandica, Nikolaus A. Haas, Martin Schweiger, Brigitte Stiller, Rainer Kozlik-Feldmann, Maria-Helena Perez, Ina Michel-Behnke, Katharina R.L. Schmitt, Stephan Schubert, Daniel Zimpfer   +10 more
doaj   +1 more source

Comparison of Two Measurement Devices for Pulse Wave Velocity in Children: Which Tool Is Useful to Detect Vascular Alterations Caused by Overweight?

Frontiers in Pediatrics, 2019
Vascular alterations may lead to manifest cardiovascular disease in future life. There is a tremendous time delay between the onset and obvious clinical appearance of vascular alterations.
Julia Elmenhorst, Heidi Weberruss, Martina Mayr, Karin Pfister, Renate Oberhoffer, Renate Oberhoffer   +5 more
doaj   +1 more source

Ethnic and socioeconomic variation in incidence of congenital heart defects

Archives of Disease in Childhood, 2016
Introduction Ethnic differences in the birth prevalence of congenital heart defects (CHDs) have been reported; however, studies of the contemporary UK population are lacking.
R. Knowles, D. Ridout, S. Crowe, C. Bull, J. Wray, J. Tregay, R. Franklin, D. Barron, D. Cunningham, R. Parslow, K. Brown   +10 more
semanticscholar   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source