Musculo-Skeletal Abnormalities in Patients with Marfan Syndrome

Abstract

BackgroundA leptosomic body type is tall and thin with long hands. Marfanoid features may be familial in nature or pathological, as occurs in congenital contractual arachnodactyly (Beal’s syndrome) and Shprintzen-Goldberg syndrome mimicking some of the changes of Marfan syndrome, although not accompanied by luxation of lens and dissecting aneurysm of aorta.MethodsIn this article we collected eight patients who were consistent with the diagnosis of Marfan syndrome via phenotypic and genotypic characterization.ResultsOur patients manifested a constellation of variable presentations of musculo-skeletal abnormalities ranging from developmental dysplasia of the hip, protrusio acetabuli, leg length inequality, patellar instability, scoliosis, to early onset osteoarthritis. Each abnormality has been treated accordingly.ConclusionThis is the first paper which includes the diagnosis and the management of the associated musculo-skeletal abnormalities in patients with Marfan syndrome, stressing that patients with Marfan syndrome are exhibiting great variability in the natural history and the severity of musculo-skeletal abnormalities.

Pregnancy and Childbirth in Patients With Syndrome-Marfan

“…extensibility and instability with frequent joint dislocations and subluxations, prolapse of the femoral head, 7 valgus posterior segment combined with abduction of the anterior and shortening of the average part of the edge of the leg, 7 of the ends arachnodaktylia hands (especially long thin fingers) and the chest wall may be observed as distortion asymmetry and tropidoeidis (pectus carinatum) or funnelshaped (pectus excavatum) thorax. 7 In the spine, scoliosis and spondylolisthesis are described.…”

“…extensibility and instability with frequent joint dislocations and subluxations, prolapse of the femoral head, 7 valgus posterior segment combined with abduction of the anterior and shortening of the average part of the edge of the leg, 7 of the ends arachnodaktylia hands (especially long thin fingers) and the chest wall may be observed as distortion asymmetry and tropidoeidis (pectus carinatum) or funnelshaped (pectus excavatum) thorax. 7 In the spine, scoliosis and spondylolisthesis are described. 8 c. In the nervous system, dural ectasia (inflation of the bag of the dura and the vertebral canal together possibly swelling sheaths spinal nerves) 9 affects the spinal canal in all degrees of the spine, often in the lumbosacral region and can manifest with headache, back pain, damage of muscle power and limiting the sensation of the legs and pain in the anal region and external genital organs are deteriorating in the supine and enhances the prone (face down) bed.…”

Immunolocalisation of fibrillin microfibrils in the calf metacarpal and vertebral growth plate

“…; Judge & Dietz, ; Al Kaissi et al. ). Mutations in the FBN1 gene have also been found in patients with the opposite phenotype to those of patients with MFS, such as patients with geleophysic dysplasia (GD; OMIM: 231050) and acromicric dysplasia (AD; OMIM: 102370), and with Weill–Marchesani syndrome (WMS; OMIM: 608328; Faivre et al.…”

“…Fibrillin-1 has been found in other cartilages (Keene et al 1997;Yu & Urban, 2010), but the presence of fibrillins in the growth plate has not been documented to date, even though mutations of the genes encoding fibrillin-1 and fibrillin-2 lead to growth disturbances. Overgrowth of limbs and scoliosis are characteristics of patients with Marfan syndrome (MFS; OMIM: 154700) or congenital contractural arachnodactyly (CCA; OMIM: 121050), arising from mutations of FBN1 and FBN2, respectively (Gupta et al 2002;Judge & Dietz, 2005;Al Kaissi et al 2013). Mutations in the FBN1 gene have also been found in patients with the opposite phenotype to those of patients with MFS, such as patients with geleophysic dysplasia (GD; OMIM: 231050) and acromicric dysplasia (AD; OMIM: 102370), and with Weill-Marchesani syndrome (WMS; OMIM: 608328; Faivre et al 2003;Le Goff et al 2011;Sengle et al 2012), all characterised by severely short stature.…”

Hip instability: a review of hip dysplasia and other contributing factors

“…The examiner internally and externally rotates the hip to its limits, with pain during internal or external rotation indicating a positive test. The sensitivity and specificity of this test for predicting an LT tear is 90% and 85%, respectively, based on arthroscopic findings 22 . Joint hypermobility due to soft tissue laxity, either idiopathic or due to Ehlers-Danlos syndrome 6 or Marfan syndrome 23 , may be assessed with the Beighton Hypermobility Score 24,25 . This score is based on a scale from 0 to 9, with each of the following counting as 1 point: hyperextension of the right/left elbow, hyperextension of the right/left knee, excessive passive dorsiflexion (>90°) of the right/left fifth metacarpophalangeal joints, passive dorsiflexion of the right/left thumb to the forearm, and ability to rest the palms and hands flat on the floor during trunk forward flexion with the knees fully extended.…”