Difficulties in Diagnosing Marfan Syndrome in Rheumatologist Practice
Keywords:
hereditary disorders of connective tissue, connective tissue dysplasia, malocclusion, dental growth disorders, facial dysmorphia, Marfan syndrome.Abstract
Early diagnosis and timely therapy vascular complications of Marfan syndrome are extremely important - they determine the prognosis of patients' lives. Early cardiac surgical correction for Marfan syndrome allows significantly increase duration and improve quality of life of patients. Material and methods: Clinical laboratory-instrumental examination of patients diagnosed with Marfan syndrome. Results: A comprehensive examination aimed at searching for characteristics of Marfan syndrome and hereditary connective tissue disorders indicated for first-degree relatives with the purpose of early diagnosis and correction of possible anomalies. Conclusions: This clinical case deserves attention due to the late diagnosis of Syndrome Marfan. Syndrome Marfan usually detected in childhood or adolescence, especially in the presence of bone abnormalities. The presence of funnel chest deformity should have been attract the attention of pediatricians, and subsequently therapists during medical examinations.
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