The mystery of Williams-Beuren syndrome associated with pulmonary dysfunction, sudden death, and Kounis syndrome.
Summary of "The mystery of Williams-Beuren syndrome associated with pulmonary dysfunction, sudden death, and Kounis syndrome."
No Summary Available
Affiliation
Department of Medical Sciences, Patras Highest Institute of Education and Technology, Patras, Greece.
Journal Details
This article was published in the following journal.
Name: American journal of medical genetics. Part A
ISSN: 1552-4833
Pages:
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/20683982
- DOI: http://dx.doi.org/10.1002/ajmg.a.33549
Medical and Biotech [MESH] Definitions
Scimitar Syndrome
An anomalous pulmonary venous return in which the right PULMONARY VEIN is not connected to the LEFT ATRIUM but to the INFERIOR VENA CAVA. Scimitar syndrome is named for the crescent- or Turkish sword-like shadow in the chest radiography and is often associated with hypoplasia of the right lung and right pulmonary artery, and dextroposition of the heart.
Acute Radiation Syndrome
A condition caused by a brief whole body exposure to more than one sievert dose equivalent of radiation. Acute radiation syndrome is initially characterized by ANOREXIA; NAUSEA; VOMITING; but can progress to hematological, gastrointestinal, neurological, pulmonary, and other major organ dysfunction.
Facies
The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)
Acute Chest Syndrome
Respiratory syndrome characterized by the appearance of a new pulmonary infiltrate on chest x-ray, accompanied by symptoms of fever, cough, chest pain, tachypnea, or DYSPNEA, often seen in patients with SICKLE CELL ANEMIA. Multiple factors (e.g., infection, and pulmonary FAT EMBOLISM) may contribute to the development of the syndrome.
Pulmonary Surfactant-associated Protein B
A pulmonary surfactant associated-protein that plays an essential role in alveolar stability by lowering the surface tension at the air-liquid interface. Inherited deficiency of pulmonary surfactant-associated protein B is one cause of RESPIRATORY DISTRESS SYNDROME, NEWBORN.
PubMed Articles
John C. P. Williams of Williams-Beuren syndrome.
John C.P. Williams of New Zealand, whose name is associated with Williams-Beuren syndrome, spent his known professional career primarily in cardiovascular research. His disappearance in the mid-1970s...
Williams-Beuren syndrome: historical aspects.
Williams syndrome, also known as Williams-Beuren syndrome (OMIM database entry 194050), is now known to be commonly associated with a hemizygous chromosomal deletion at 7.q11.23. The way in which the...
The mystery of sudden death in Williams-Beuren syndrome: Cardiomyopathy or Kounis syndrome?
Hypertensive encephalopathy: a rare presentation of williams-beuren syndrome.
A male child of four years is reported with Williams-Beuren Syndrome (WBS). It was not recognized initially when he presented with odd facies and developmental delay since early infancy. The diagnosis...
Cardiomyopathy and sudden cardiac death in Williams-Beuren-Syndrome.
Clinical Trials
Efficacy of Minoxidil in Children With Williams-Beuren Syndrome
The Williams-Beuren syndrome (WBS) is a sporadic congenital disorder characterized by a multisystem developmental impairment. This syndrome is caused by a microdeletion in chromosome 7q11....
Vitamin D Metabolism and the Williams Syndrome
The Williams syndrome is a disease in which supravalvular aortic stenosis, an elfin facies, mental retardation and other congenital defects are sometimes associated with abnormal vitamin D...
The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
The purpose of this study is to investigate the Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Tre...
Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2). II. Clinically evaluate SMS patients with unusua...
Hippocampal Complex Volume and Memory Dysfunction in Cushing's Syndrome
OBJECTIVES: I. Evaluate whether chronic hypercortisolemia is specifically toxic to hippocampal cells and causes structural reduction of hippocampal volume in patients with Cushing's syndr...
