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Revised Diagnostic Criteria for the Marfan Syndrome A Clinical-Radiographic Essay
Abstract
Despite the discovery of its causative mutations, the diagnosis of the Marfan syndrome (MFS) is problematic because of its extreme variability of clinical expression, absence of pathognomonic features, and phenotypic abnormalities shared with other heritable disorders of connective tissue. To facilitate its clinical recognition and to provide the basis for differential diagnosis with heritable conditions whose phenotypes partially overlap those of MFS, a set of diagnostic criteria was established and recently revised. The key musculoskeletal manifestations that, in combination, provide high diagnostic specificity are pectus carinatum and severe pectus excavatum, dolichostenomelia, wrist and thumb signs, scoliosis or spondylolisthesis, reduced extension at the elbows, medial displacement of the medial malleolus, and protrusio acetabuli. Other common but less specific manifestations, considered minor criteria, are pectus excavatum of moderate severity, joint hypermobility, and diverse craniofacial manifestations. Musculoskeletal complaints are prevalent in the MFS. Signs and symptoms fall into three categories, joint hypermobility, spinal deformities, and degenerative joint disease. Arthralgias, back pain, and pain related to ligament laxity are the most common complaints. Major diagnostic criteria also are ectopia lentis, as the hallmark of ocular involvement; dilatation and/or dissection of the ascending aorta, as the major and life-threatening cardiovascular manifestations; and dural ectasia, which is now considered a valuable diagnostic pointer. The family history and molecular analysis also constitute major criteria. This pictorial essay is intended to graphically depict the main clinical and radiographic abnormalities seen in MFS. To facilitate clinical recognition by rheumatologists and orthopedic surgeons, the musculoskeletal manifestations of MFS are emphasized. Musculoskeletal features may require treatment and can provide clues for the diagnosis of major cardiovascular or other systemic abnormalities associated with this syndrome.
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In 1896, Marfan1 described the syndrome that would come to bear his name in a 5½-year-old girl with severe connective tissue disease. Her condition was not unlike that seen in two young girls whose identical mutations of the fibrillin type 1 gene were recently described by Dietz et al.2 In these two unrelated, sporadic cases of the Marfan syndrome, the diagnosis was suspected at birth because of severe arachnodactyly, lack of subcutaneous fat, and typical facial appearance. The patients were first seen at ages 4 and 2½ years for an ocular evaluation, and both had microspherophakia with marked iridodonesis, but the lenses were in the pupillary axis. Both girls had myopia ( − 31.00 OD and −30.00 OS in one, and − 18.00 OD and −16.50 OS in the other). Axial length measurements were 26.4 mm OD and 26.4 mm OS, and 23.9 mm OD and 23.2 mm OS
The Marfan syndrome is a genetic disorder of connective tissues resulting in ocular, cardiovascular, and musculoskeletal deformities. The authors reviewed 22 cases of Marfan syndrome. Forty-five percent (ten of 22) of the patients had acetabular protrusion, with one-half of these being unilateral and one-half bilateral. Scoliosis was associated with acetabular protrusion in 90% of cases (nine of ten). The authors conclude that acetabular protrusion is a common skeletal finding in the Marfan syndrome.