Results 81 to 90 of about 60,528 (234)

A child of Williams-Beuren syndrome for inguinal hernia repair: Perioperative management concerns

The Indian Anaesthetists' Forum, 2016
Williams-Beuren syndrome, commonly known as Williams syndrome (WS), is a multi-organ disorder. The principal anomalies of the syndrome are developmental delay, unusual craniofacial dysmorphic features, and cardiovascular anomalies such as valvular or ...
Sangeeta Deka, Jyotirmoy Das, Sangeeta Khanna, Yatin Mehta, Meera Luthra   +4 more
doaj   +1 more source

Clinical and Radiographic Evaluation of Molar Root–Incisor Malformation (MRIM): A Case Series

Case Reports in Dentistry, Volume 2025, Issue 1, 2025.
Background Molar root–incisor malformation (MRIM) is a rare dental anomaly characterized by root malformations, abnormal pulp chamber development, and dental developmental defects. Primarily affecting the permanent first molars, MRIM can also involve the primary second molars and permanent maxillary central incisors.
Ayşegül Karahan, Merve Mısır, Mine Koruyucu, Leandro Napier de Souza   +3 more
wiley   +1 more source

JAGGED1/NOTCH3 activation promotes aortic hypermuscularization and stenosis in elastin deficiency

The Journal of Clinical Investigation, 2022
Obstructive arterial diseases, including supravalvular aortic stenosis (SVAS), atherosclerosis, and restenosis, share 2 important features: an abnormal or disrupted elastic lamellae structure and excessive smooth muscle cells (SMCs).
Jui M. Dave, Raja Chakraborty, Aglaia Ntokou, Junichi Saito, Fatima Z. Saddouk, Zhonghui Feng, Ashish Misra, George Tellides, Robert K. Riemer, Zsolt Urban, Caroline Kinnear, James Ellis, Seema Mital, Robert Mecham, Kathleen A. Martin, Daniel M. Greif   +15 more
doaj   +1 more source

Supravalvular Aortic Stenosis [PDF]

Circulation, 1959
In 3 patients obstruction to left ventricular outflow was shown to be due to a localized narrowing of the aortic root at the point of insertion of the aortic leaflets. The site of obstruction was localized by left heart catheterization and selective angiography.
A G, MORROW, J A, WALDHAUSEN, R L, PETERS, R D, BLOOD-WELL, E, BRAUNWALD   +4 more
openaire   +2 more sources

Short Stature in Moyamoya Disease: A Systematic Review of Potential Mechanisms and Clinical Outcomes

Stroke Research and Treatment, Volume 2025, Issue 1, 2025.
Background: Moyamoya disease (MMD) is a complex cerebrovascular disorder. While its neurological manifestations are well documented, the association between MMD and short stature remains underrecognized. This review explores potential mechanisms linking MMD with growth impairment, with a focus on endocrine and syndromic contributors.
Abdallah M. Mujbel, Lea Nohra, Haidar Karrar T. Sabih, Rania H. Al-Taie, Suraiya Saleem   +4 more
wiley   +1 more source

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

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. [PDF]

, 2013
Autosomal recessive cutis laxa type I (ARCL type I) is characterized by generalized cutis laxa with pulmonary emphysema and/or vascular complications. Rarely, mutations can be identified in FBLN4 or FBLN5.
Bresson, J.L., Callewaert, B., Coucke, P.J., Davis, E.C., De Almeida, S., De Paepe, A., Gaspar, H., Gosendi, M.E., Heimdal, K., Kornak, U., Lee, J.G., Mac Neal, M., Madan-Khetarpal, S., Malfait, F., Mansour, S., Piérard, G.E., Prescott, K., Salhi, A., Schulz, B., Sciurba, F.C., Su, C.T., Symoens, S., Unger, S., Urban, Z., Van Damme, T., Van Maldergem, L., Vanakker, O., Vlummens, P.   +27 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

CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes [PDF]

, 2015
CHD is frequently associated with a genetic syndrome. These syndromes often present specific cardiovascular and non-cardiovascular co-morbidities that confer significant peri-operative risks affecting multiple organ systems.
Cooper, David S., Hinton, Robert B., Landis, Benjamin J.   +2 more
core   +1 more source

Cleft anterior mitral leaflet with supravalvular aortic stenosis a rare association

Heart Views, 2015
A 20 year old female was referred to us for evaluation of effort dyspnoea of NYHA class II with feeble left common carotid, left brachial and left radial artery as compared to other sides.
Premratan, Akshyaya Pradhan, Rajiv Bharat Kharwar, Rishi Sethi, Varun Shankar Narain   +4 more
doaj   +1 more source