Oral manifestationsSince French investigator Bernard-Jean Antoine Marfan's first report in 1896 on malformations of the head and bone system, the clinical manifestations of Marfan's syndrome have now been well established. Marfan's syndrome is a multisystem disorder that commonly affects the connective...
Marfan syndrome is a multisystem connective tissue disorder usually associated with mutation in fibrillin, and occasionally with mutation in TGFBR1 or 2. The clinical diagnosis is made using the Ghent nosology, which will unequivocally diagnose or exclude Marfan syndrome in 86% of cases. Use of a...
Although cystic medionecrosis of great vessels has been a well-known pathological entity, the diagnosis is usually made at autopsy. The clinical manifestations are often limited to the aorta, resulting in aneurysms and aortic insufficiency. Report is given of a case where the degenerative process in...
What are the clinical manifestations of the neonate with drug dependency? What is the term used to identify Down syndrome that names the congenital defect? What are the causes and treatment for the following clinical condition: Salpingitis?
Marfan syndrome Marfan syndrome has a broad continuum of clinical manifestations involving the ocular, skeletal, and cardiovascular systems. Lens dislocation, seen in about 60%, is a hallmark feature. Myopia, retinal detachment, glaucoma, and early cataract formation are seen. Bone overgrowth leads to...
DISEASE CHARACTERISTICS 1.1 Name of the disease (synonyms) Marfan syndrome type 1 and related phenotypes. 1.2 OMIM# of the disease 154700. 1.3 Name of the analysed genes or DNA/chromosome segments FBN1. genomic deletions (2%) were found using MLPA.4 Similarly, Liu et al5 identified two FB...
reported a case of severe carotid artery dissection caused by periodontal infection of the second inferior molar and cervical cellulitis, suggesting that severe periodontal infection may be a contributing factor in the development of arterial dissection.70 Marfan syndrome (MFS) is an autosomal dominant ...
What are SIRS and ARDS? What causes these conditions when a patient has multiple organ dysfunction syndrome (MODS)? What types of diseases produce abnormalities in the first phase of blood coagulation? Describe the pathophysiology, clinical manifestations, and treatment...
55). The estimate of systemic features was 5 points, according to the revised Ghent criteria for the diagnosis of Marfan syndrome [29], therefore the patient did not meet the clinical diagnostic criteria (< 7 points). Single-nucleotide polymorphism microarray (SNParray) analysis of blood DNA...
We describe the clinical features of 10 patients with a complete FBN1 gene deletion. Seven patients fulfilled the Ghent criteria for Marfan syndrome (MFS). The other three patients were examined at a young age and did not (yet) present the full clinical picture of MFS yet. Ectopia lentis...