Related Experiment Video
Updated: Jun 7, 2026
06:02
An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level
Published on: November 2, 2020
Hallermann-Streiff syndrome with hemihypertrophy
D G Dogan1, H Karabiber, M D Erhan
1Department of Pediatrics, Inönü University, Turgut Ozal Medical Center, Malatya, Turkey. deryagumus@yahoo.com
Genetic Counseling (Geneva, Switzerland)
|October 23, 2010
Summary
This report details a rare case of Hallermann-Streiff syndrome in a five-year-old girl who also presented with hemihypertrophy. This combination of Hallermann-Streiff syndrome and hemihypertrophy has not been previously documented in medical literature.
Area of Science:
- Medical Genetics
- Pediatric Case Reports
Background:
- Hallermann-Streiff syndrome is a rare congenital disorder characterized by distinctive facial features, dental anomalies, and hypotrichosis.
- Hemihypertrophy is a condition involving overgrowth of one side of the body or a specific body part.
Observation:
- A five-year-old female patient was diagnosed with Hallermann-Streiff syndrome.
- The patient also exhibited signs of hemihypertrophy, affecting one side of her body.
Findings:
- This case represents the first documented instance of hemihypertrophy co-occurring with Hallermann-Streiff syndrome.
- The association between these two conditions was previously unreported in scientific literature.
Implications:
- This finding expands the known clinical spectrum of Hallermann-Streiff syndrome.
- Further research may be warranted to explore potential genetic or developmental links between Hallermann-Streiff syndrome and hemihypertrophy.
Related Concept Videos
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
01:22Mitral Stenosis I: Introduction
Mitral Valve Stenosis (MVS) is a heart condition where the mitral valve narrows, impeding blood circulation from the left atrium to the left ventricle. The etiology and pathophysiology of this condition are multifaceted, leading to a cascade of cardiovascular complications.Causes of Mitral Valve StenosisRheumatic Heart Disease: It is the main cause of mitral valve stenosis, particularly in developing nations. This condition arises from rheumatic fever, an inflammatory illness resulting from...
01:20Mitral Regurgitation I: Introduction
Mitral regurgitation is characterized by the backward circulation of blood from the left ventricle to the left atrium during systole, a phase of the cardiac cycle when the heart contracts and pumps blood out of the chambers. This abnormal flow occurs primarily due to the dysfunction of the mitral valve or its supporting structures, which include the mitral leaflets, chordae tendineae, annulus, and papillary muscles.Etiology and Mechanisms:Primary Mitral Regurgitation: This type arises from...
01:29Heart Failure II: Pathophysiology
Systolic Heart Failure and Compensatory MechanismsSystolic heart failure (also termed HFrEF, Heart Failure with Reduced Ejection Fraction) is the most prevalent type of heart filure. It results in a decreased volume of blood being pumped from the ventricle. The aortic arch and carotid sinuses have baroreceptors that detect reduced blood pressure, triggering the sympathetic nervous system (SNS) to release epinephrine and norepinephrine. Initially, this response aims to boost heart rate and...
01:26Cellular Adaptation II: Hypertrophy
Hypertrophy is the increase in the size of individual cells, resulting in the enlargement of a tissue or organ. Unlike hyperplasia, which involves an increase in cell number, hypertrophy is characterized by an increase in cell volume. This process often occurs in response to higher functional demand or hormonal stimulation, leading to the production of more structural proteins and organelles, thereby enhancing the cells' work capacity.There are two primary types of hypertrophy: physiological...
01:23Mitral Stenosis II: Clinical features and Diagnostic Tests
Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...