Results 91 to 100 of about 59,059 (254)

Optical genome mapping with genome sequencing identifies subtelomeric Xq28 deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder

American Journal of Medical Genetics Part A, Volume 194, Issue 12, December 2024.
Abstract We report a 17‐year‐old male with supravalvular stenosis, initial failure to thrive and delayed early development, short stature, acromelia, dysmorphic facial features, hypertelorism, macrocephaly, syringomyelia, hypertension, and anxiety disorder.
Jorge L. Rodriguez‐Gil, Peter L. Nagy, Uta Francke   +2 more
wiley   +1 more source

Williams Syndrome and Neonatal Cardiac Surgery for Congenital Single Ventricle

JACC: Case Reports, 2020
Williams syndrome (WS) is an arteriopathic derangement associated with supravalvular aortic stenosis and branch pulmonary stenosis. We describe double-outlet right ventricle with mitral atresia and aortic arch hypoplasia in an infant with WS.
Taylor E. Katt, MD, Robert L. Spicer, MD, Anji T. Yetman, MD, Ali N. Ibrahimiye, MD, James M. Hammel, MD, Jeffrey A. Robinson, MD   +5 more
doaj  

A rare case of discrete aortic coarctation in Williams-Beuren syndrome. Diagnostic and therapeutic considerations

La Pediatria Medica e Chirurgica, 2015
Williams-Beuren syndrome (WBS) is a genetic disorder caused by elastin gene deletions, and is characterized by cardiovascular malformations, primarily including supravalvular aortic stenosis and peripheral pulmonary stenosis.
Savina Mannarino, Eitan Keizman, Michele Pasotti, Alessia Claudia Codazzi, Elisabetta De Sando, Alessandro Giamberti   +5 more
doaj   +1 more source

Echocardiographic evaluation of velocity ratio, velocity time integral ratio, and pulmonary valve area in dogs with pulmonary valve stenosis. [PDF]

, 2018
BackgroundVelocity ratio, velocity time integral (VTI) ratio, and pulmonary valve area indexed to body surface area (iPVA) are methods of assessment of pulmonary valve stenosis (PS) severity that are less dependent on blood flow. Studies evaluating these
Bélanger, Catherine, Gunther-Harrington, Catherine T, Nishimura, Satoko, Oldach, Maureen S, Stern, Joshua A, Visser, Lance C   +5 more
core   +1 more source

Disorders of puberty and neurodevelopment: A shared etiology?

Annals of the New York Academy of Sciences, Volume 1541, Issue 1, Page 83-99, November 2024.
Disorders of puberty result primarily from dysregulation of gonadotropin‐releasing hormone secretion in the hypothalamus. Studies have uncovered associations between pubertal timing and neurodevelopment. This review discusses the overlap between the brain circuitry controlling puberty and behavior, highlights neurodevelopmental conditions with ...
Jordan E. Read, Alexandru Vasile‐Tudorache, Angel Newsome, María José Lorente, Carmen Agustín‐Pavón, Sasha R. Howard   +5 more
wiley   +1 more source

Distribuição por sexos das cardiopatias congénitas.

Acta Médica Portuguesa, 1994
For 17 years, 4150 infants and children under 13 years of age with final diagnosis of well defined congenital heart disease were studied and the pattern of sex differences are reported.
F Sampayo, F F Pinto
doaj   +1 more source

Primary repair of transposition of the great arteries with an interrupted aortic arch: a case report and literature review

Journal of Cardiothoracic Surgery, 2020
Transposition of the great arteries (TGA) and interruption of the aortic arch (IAA) are uncommon congenital heart diseases. The association between TGA and IAA is rare.
Qiteng Xu, Shuhua Duan, Pengchao Xing, Rui Chen   +3 more
doaj   +1 more source

Application of Whole‐Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System Abnormalities

Molecular Genetics &Genomic Medicine, Volume 12, Issue 10, October 2024.
An additional 28.9% (43/149) diagnostic yield was increased by WES in the prenatal evaluation of foetuses with any CNS abnormalities anomaly following negative results by karyotyping and chromosome array. WES may also be of benefit for foetuses with isolated CNS anomalies.
Caiqun Luo, Erya Wen, Yang Liu, Hui Wang, Bei Jia, Liyuan Chen, Xiaoxia Wu, Qian Geng, Huaxuan Wen, Shengli Li, Bingguang Liu, Weiqing Wu, Mei Zhong   +12 more
wiley   +1 more source

Shone’s syndrome in adult. Report of a case

Revista Cubana de Cardiología y Cirugía Cardiovascular, 2011
Shone´s syndrome is a rare entity characterized by four basics defects: supravalvular mitralring, valvular mitral stenosis by a parachute mitral valve, subaortic stenosis and aortic coarctation.This entity commonly curses with its incomplete form and ...
Juan Valiente Mustelier, Alberto Antonio Yanes Quintana, Raymid García Fernández, Yoel Isaac Tuya Acosta   +3 more
doaj  

Congenital heart disease: types, pathophysiology, diagnosis, and treatment options

MedComm, Volume 5, Issue 7, July 2024.
In this review, we provide an update of the pathophysiology, diagnosis, and treatment in most common type of CHD, including patent foramen ovale, atrial septal defect, ventricular septal defect, atrioventricular septal defect, patent ductus arteriosus, coarctation of the aorta, transposition of the great arteries, corrected transposition of the great ...
Xiao Meng, Ming Song, Kai Zhang, Weida Lu, Yunyi Li, Cheng Zhang, Yun Zhang   +6 more
wiley   +1 more source