Results 81 to 90 of about 159,275 (311)

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi, Silvia Pontesilli, Laura Demelas, Francesca Vigliani, Massimo Agosti, Angelo Selicorni   +5 more
wiley   +1 more source

Sex differences in publication volume and quality in congenital heart disease: are women disadvantaged?

Open Heart, 2019
Background Women are underrepresented in leading medical positions and academia. The gender-gap in authorship of congenital heart disease (CHD) publications remains unknown.
Michael A Gatzoulis, Gerhard Paul Diller, Aleksander Kempny, Sophie van Doren, Margarita Brida, Sonya V Babu-Narayan, Ulrike M M Bauer, Helmut Baumgartner   +7 more
doaj   +1 more source

Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome

American Journal of Medical Genetics Part A, EarlyView.
Katherine J. K. Patterson, John M. Graham Jr, Natalie D. Shaw   +2 more
wiley   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

Epidemiology of paediatric chronic heart failure in Germany—A population‐based analysis

ESC Heart Failure
Aims Paediatric chronic heart failure (CHF) is associated with significant morbidity. The aim of this study was to describe paediatric CHF epidemiology in Germany.
Alexej Bobrowski, Sven Klebs, Marco Alibone, Leonore Bovy, Dennis Häckl, Thilo Fleck, Brigitte Stiller   +6 more
doaj   +1 more source

Case Report: Heart aneurysm of unknown origin in a two-year-old child diagnosed in the course of Multisystem Inflammatory Syndrome in Children

Frontiers in Cardiovascular Medicine
We present a case of a 22-month-old boy with a hypokinetic and thin-walled aneurysm of the left ventricle apex. The lesion was diagnosed during routine echocardiography examination in the course of MIS-C, and its occurrence due to MIS-C is plausible ...
Dominika Mystkowska, Michal Galeczka, Wojciech Tarala, Pawel Banaszak, Joanna Sliwka, Szymon Pawlak, Roland Fiszer   +6 more
doaj   +1 more source

Pentalogy of Cantrell : the first Maltese case with successful outcome [PDF]

, 1997
Pentalogy of Cantrell is a rare disorder which was first described by Cantrell and his colleagues in 1958. It is comprised of congenital heart disease and midline defects.
Grech, Victor E., Parascandalo, Raymond, Rees, Philip G.   +2 more
core  

A role for Gle1, a regulator of DEAD-box RNA helicases, at centrosomes and basal bodies. [PDF]

, 2017
Control of organellar assembly and function is critical to eukaryotic homeostasis and survival. Gle1 is a highly conserved regulator of RNA-dependent DEAD-box ATPase proteins, with critical roles in both mRNA export and translation.
Akef, Abdalla, Jao, Li-En, Wente, Susan R   +2 more
core   +1 more source

3D printing is a transformative technology in congenital heart disease [PDF]

, 2018
Survival in congenital heart disease has steadily improved since 1938, when Dr. Robert Gross successfully ligated for the first time a patent ductus arteriosus in a 7-year-old child.
Anwar, Anwar, Barach, Bernhard, Bhatla, Biglino, Biglino, Binder, Boneva, Borrello, Botto, Brown, Bucher, Byrne, Chaowu, Conti, Costello, Dearani, Deferm, Duan, Duan, Erikssen, Fan, Farooqi, Farooqi, Farooqi, Fleming, Fukunishi, Garekar, Gaynor, Gentles, Giamberti, Giannopoulos, Giroud, Gosnell, Grant, Green, Hadeed, Hermsen, Hoffman, Holst, Holst, Hu, Jacobs, Jana, Javan, Jonas, Kappetein, Kapur, Khairy, Kiraly, Kirklin, Kolli, Kotsis, Kung, Lee, Lee, Little, Lloyd-Jones, Mahle, Mahmood, Mannoor, Maragiannis, Markert, Markstedt, Mashari, Meier, Michael, Mitsouras, Moons, Moore, Morrison, Muraru, Ngan, Noecker, Olivieri, Olivieri, O’Brien, O’Neill, Pentecost, Poterucha, Randazzo, Rehder, Riesenkampff, Ripley, Rodriguez-Paz, Ryan, Saeed, Samuel, Santos dos, Schievano, Schmauss, Shah, Smith, Sodian, Sodian, Sutcliffe, Tabriz, Tack, Taylor, Valverde, VanKoevering, Vukicevic, Vukicevic, Vukicevic, Wang, Wang, Warnes, Warnes, Warnes, Whitlock, Wilasrusmee, Williams, Witschey, Yoo, Yoo, Zopf, Zweifel   +117 more
core   +3 more sources

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird   +4 more
wiley   +1 more source