Early prenatal sonographic diagnosis and follow-up of Jeune syndrome

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.

Ultrasonography is an imaging technique that uses high-frequency sound waves to visualize the body's internal structures. It is a non-invasive and safe procedure that does not involve the use of ionizing radiation, making it widely used in various medical fields. Ultrasonography is used to study heart function, blood flow in the neck or extremities, certain conditions such as gallbladder disease, and fetal growth and development.
During an ultrasonography procedure, a handheld device called a...

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...

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...

Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...

IntroductionUltrasonography, or renal ultrasound, is a noninvasive medical imaging technique that uses high-frequency sound waves to visualize the kidneys, ureters, bladder, and surrounding tissues.Indications for Urinary System UltrasonographyUrinary system ultrasonography is indicated in various clinical scenarios, such as:Kidney Stones (Urolithiasis): To detect and monitor the size and presence of kidney or urinary tract stones.Hydronephrosis: To assess the dilation of the renal pelvis and...