publication . Article . Other literature type . 2019

Cardiofaciocutaneus syndrome: literature review and case report

Umnov, V. V.; Nikitina, N. V.; Khodorovskaya, A. M.; Barlova, O. V.;
Open Access Russian
  • Published: 12 Jan 2019 Journal: Nervno-Myšečnye Bolezni, volume 8, issue 4, pages 49-53 (issn: 2222-8721, eissn: 2413-0443, Copyright policy)
  • Publisher: ABV-press
Abstract
<jats:p><jats:underline>The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, neglected orthopedic pathology, developmental delay and spasticity, which rare in this syndrome.</jats:underline></jats:p>
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Subjects
free text keywords: cardiofaciocutaneous syndrome, spasticity, neglected orthopedic pathology, lcsh:Neurology. Diseases of the nervous system, lcsh:RC346-429, medicine.symptom, medicine, Sporadic occurrence, Bone pathology, business.industry, business, Dermatology, medicine.medical_specialty, Craniofacial, medicine.disease
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