Related Experiment Video
Updated: Aug 14, 2026
05:51
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Hallermann-Streiff-Francois syndrome
Journal of Pediatric Ophthalmology
|November 1, 1977
Summary
Hallermann-Streiff-Francois Syndrome can cause glaucoma due to eye malformations. Surgical intervention, trabeculectomy, effectively managed intraocular pressure for two years in this case.
Area of Science:
- Ophthalmology
- Genetics
- Dermatology
Background:
- Hallermann-Streiff-Francois Syndrome (HSFS) is a rare genetic disorder characterized by distinctive facial features, skeletal abnormalities, and skin issues.
- Ocular complications, particularly glaucoma, are significant but not always emphasized aspects of HSFS.
- Understanding the etiology of glaucoma in HSFS is crucial for timely diagnosis and management.
Observation:
- A case of HSFS presenting with significant ocular complications, specifically glaucoma.
- Clinical examination revealed anterior segment developmental malformations contributing to elevated intraocular pressure.
- Histologic examination of skin biopsies confirmed characteristic atrophic changes associated with HSFS.
Findings:
- Bilateral trabeculectomy was performed to address the glaucomatous complication.
- The surgical procedure successfully controlled intraocular pressure over a two-year follow-up period.
- Glaucoma appears to be a frequent and critical symptom in HSFS, comparable to other cardinal features.
Implications:
- This case highlights the importance of regular ophthalmic screening in patients with Hallermann-Streiff-Francois Syndrome.
- Early detection and surgical management of glaucoma can prevent vision loss in HSFS patients.
- Further research into the specific mechanisms linking HSFS to ocular malformations and glaucoma is warranted.
More Related Videos
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
08:22A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
Published on: September 16, 2019
Related Concept Videos
01:43Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
02:30Genomic Imprinting and Inheritance
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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...
01:17Schizophrenia
Schizophrenia, a term introduced by Swiss psychiatrist Eugen Bleuler in 1911, describes a severe psychological disorder marked by profound disruptions in attention, thought processes, language, emotion, and interpersonal relationships. The core feature of schizophrenia is psychosis — a state characterized by a fundamental detachment from reality. This disconnection manifests through distorted logic, impaired perception, and atypical behavior, severely affecting the lives of those diagnosed.
01:22Personality Disorders: Paranoid and Schizoid
Personality disorders represent enduring cognition, affect, and behavior patterns that significantly deviate from societal norms. These maladaptive traits often lead to difficulties in various domains, including interpersonal relationships, occupational settings, and overall psychological well-being. Paranoid personality disorder and schizoid personality disorder are two distinct conditions marked by odd or eccentric behavior.
Paranoid Personality Disorder
Paranoid personality disorder is...
Paranoid Personality Disorder
Paranoid personality disorder is...
01:21Huntington Disease l: Introduction
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...