Pierre Robin syndrome is a genetically determined anomaly characterized by hypoplasia of the mandible, palatine cleft and glossoptosis. The combination of MFR causes difficulty in feeding, obstructive apnea, diffuse cyanosis, the risk of food aspiration and asphyxia. Pathology is diagnosed according to radiography and CT of the jaw, fibrolaryngoscopy, polysomnography, genodiagnostics. Conservative tactics include positional…
Pfeiffer syndrome is a genetic disease with an autosomal dominant mechanism of inheritance, characterized by a violation of the formation of the bones of the skull and limbs. Symptoms are deformities of the skull (as a result of craniosynostosis), bones of the fingers and toes. Some forms of the disease are characterized by deafness, impaired…
Prader-Willi syndrome is a rare genetic disease characterized by gross constitutional disorders, cognitive and mental disorders. The clinical picture is diverse, the main symptoms include obesity, growth retardation and mental retardation. Often there is a decrease in muscle tone, reproductive dysfunction. The final diagnosis is established on the basis of a molecular genetic study. No…
Pearson syndrome is a multisystem mitochondrial disease in which hematopoiesis disorders occur, insufficiency of pancreatic and liver functions. Pathology develops against the background of duplication (doubling) or sporadic deletion (loss of a site) of the maternal mDNA. The syndrome manifests itself in infancy with severe anemia, prolonged diarrhea, and a lag in psychomotor development. Diagnosis…
Pendred syndrome is a hereditary disease characterized by bilateral sensorineural hearing loss and thyroid pathology. Clinical symptoms appear from the first year of life, include progressive hearing impairment and an increase in the size of the thyroid gland (goiter). Subsequently, signs of hypothyroidism usually join. The diagnosis is made on the basis of a comprehensive…
Pallister-Killian syndrome is an extremely rare genetic disease that occurs with tetrasomy on the 12th chromosome. Its development is associated with the X-recessive type of inheritance. The condition is manifested by multiple pathologies of the perinatal period, severe forms of mental retardation, various congenital anomalies of internal organs and stigmas of dysembriogenesis. Diagnosis includes genetic…
Allgrove syndrome is a rare genetic disease manifested by alacrimia, achalasia and addisonism. The disease is caused by a mutation of AAAS, which is localized on the 12th chromosome, and is inherited in an autosomal recessive way. Pathology is characterized by “dry eye” syndrome, disorders of swallowing and promotion of food into the stomach, deficiency…
Noonan syndrome is a genetic pathology characterized by the development in patients of a symptom complex similar to Shereshevsky–Turner disease, but it occurs in persons of both sexes and is not accompanied by a change in the number of chromosomes. Symptoms of this pathology are small stature, hypertelorism, pterygoid folds on the neck, malformations of…
British researchers have proven that regular moderate or vigorous physical activity reduces the risk of heart failure. The experiments involved almost 95,000 people who wore electronic devices that track their level of involvement in sports. Heart disease is the leading cause of death in developed countries, so researchers are constantly looking for ways to reduce…
Nijmegen breakage syndrome is an extremely rare monogenic disease with an autosomal recessive type of inheritance, which is characterized by primary immunodeficiency, multiple anomalies. Pathology is associated with a mutation of the NBN gene. The main signs of Nijmegen breakage syndrome are: deformity of the facial skeleton in the form of a “bird” face, frequent…