Related Experiment Video
Updated: May 19, 2026
05:12
Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
Published on: September 19, 2019
Weill- Marchesani syndrome: a rare case report
Summary
Weill-Marchesani syndrome is a rare genetic disorder. This case highlights its presentation with high myopia, short stature, and brachydactyly, emphasizing the importance of recognizing these features.
Area of Science:
- Ophthalmology
- Genetics
- Endocrinology
Background:
- Weill-Marchesani syndrome (WMS) is a rare autosomal recessive disorder.
- Characterized by a triad of brachydactyly, short stature, and developmental abnormalities of the eye.
Observation:
- A 22-year-old male presented with high myopia and progressive visual disturbance.
- Physical examination revealed short stature and brachydactyly.
- Ophthalmic evaluation showed sub-luxated micro-spherophakic lens and reduced visual acuity.
Findings:
- The patient was diagnosed with Weill-Marchesani syndrome based on clinical presentation.
- Key features included high myopia, brachydactyly, and ocular abnormalities.
Implications:
- Early diagnosis of WMS is crucial for managing ocular complications.
- Recognizing the characteristic features can aid in timely intervention and genetic counseling.
- This case underscores the phenotypic variability and importance of a multidisciplinary approach.
Related Concept Videos
01:30Aneurysm I: Introduction
An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
01:27Esophageal Achalasia
Esophageal achalasia is a chronic neurogenic disorder characterized by impaired relaxation of the lower esophageal sphincter (LES) and absent or ineffective peristalsis in the distal esophagus. This leads to a functional obstruction without a physical blockage, despite significant disruption of esophageal motility.EtiologyAchalasia is caused by degeneration of the myenteric (Auerbach's) plexus, specifically the loss of inhibitory ganglion cells that produce vasoactive intestinal peptide (VIP)...
01:22Myasthenia Gravis ll: Pathophysiology
The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...