Myhre Syndrome in the Practice of an Obstetrician-Gynecologist: a Clinical Case
Year: 2024
Type: article
Study design: Case Report
Abstract: Myhre syndrome is an extremely rare genetic disease of connective tissue characterized by multisystem lesion, progressive and proliferative fibrosis, mental retardation. The pathogenesis is based on a mutation of the SMAD4 gene, which leads to the proliferation of abnormal fibrous tissues. The main manifestations of pathology are growth deficiency, peculiar facial features (short eye slits, hypoplasia of the middle third, prognathism), mental retardation, lesions of the musculoskeletal system, ophthalmological disorders, sclerodermic manifestations, hearing loss, pathology of the cardiovascular, respiratory system and other organs and systems. Etiotropic and pathogenetic therapy has not been developed at the moment, treatment is exclusively symptomatic. The presented clinical case of a patient with Myhre syndrome clearly demonstrates the need for an interdisciplinary approach to the diagnosis and treatment of this disease. It should also be noted the importance of spreading knowledge about rare hereditary pathology among doctors of various specialties for timely diagnosis and selection of symptomatic therapy.
Source: Effective Pharmacotherapy
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4405847017