Spondylothoracic dysostosis associated with diaphragmatic hernia and camptodactyly

J Swietliński1, K Swist-Szulik, I Maruniak-Chudek

  • 1Institute of Medical Biology and Human Genetics, Karl-Franzens University of Graz, Austria. kitipn.sk6@interia.pl

Genetic Counseling (Geneva, Switzerland)
|November 6, 2002
PubMed

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy 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...
Sex-linked Disorders02:28

Sex-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.Y chromosome mutations are called “Y-linked” and only affect males since they alone carry a copy of that chromosome. Mutations to the relatively small Y chromosome can impact male sexual function and secondary sex characteristics. Y-chromosome infertility is a disorder that affects sperm...
Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Flail Chest-I01:24

Flail Chest-I

Overview of Flail Chest
Flail chest is a severe and potentially life-threatening condition characterized by the fracture of three or more adjacent ribs in multiple places. It is most commonly caused by direct impacts and trauma, such as motor vehicle accidents or injuries from a steering wheel impact. It can also occur due to falls in elderly individuals with osteoporosis, or assaults involving sharp objects.
Pathophysiology
The pathophysiology of flail chest is complex, involving fractures of...
Pneumothorax-II01:27

Pneumothorax-II

Pneumothorax is a medical condition defined by the buildup of air in the pleural space between the lungs and the chest wall. This accumulation of air can lead to partial or complete lung collapse, resulting in a range of clinical manifestations. Understanding the clinical presentation and effective management strategies is crucial for healthcare professionals in providing timely and appropriate care to individuals with pneumothorax.
Clinical Manifestations:
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...