Chapter 96. Marfan Syndrome and Related Disorders of the Connective Tissue

2010 ◽  
pp. 450-454 ◽  
Author(s):  
Emilio Arteaga-Solis ◽  
Francesco Ramirez
Keyword(s):  
Connective Tissue ◽  
Marfan Syndrome

Banded aggregates containing fibrillin are present in the cartilage matrix adjacent to chondrocytes in individuals affected with scoliosis

1992 ◽  
Vol 50 (1) ◽  
pp. 892-893
Author(s):  
Douglas R. Keene ◽  
Magaret Fairhurst ◽  
Catherine C. Ridgway ◽  
Lynn Y. Sakai
Keyword(s):  
Connective Tissue ◽  
Marfan Syndrome ◽  
Cross Section ◽  
Immunoelectron Microscopy ◽  
Cartilage Matrix ◽  
Negative Stain ◽  
Gene Coding ◽  
Rotary Shadowing

Matrix microfibrils are present in the connective tissue matrices of all tissues. Following standard TEM processing, they appear in cross section as cylindrical fibrils 8-10 nm in diameter, often associated with amorphous elastin. They are also seen in the absence of amorphous elastin, for example in the shallow papillary layer of skin, and also in cartilage matrix (Figure 1). Negative stain and rotary shadowing studies suggest that microfibrils are composed of laterally associated globular structures connected by fine filamentous strands (“ beaded strings”), and that they are extendable. Immunoelectron microscopy has demonstrated that fibrillin, a 350 Kd glycoprotein, is distributed along all microfibrils with a relaxed periodicity of about 54 nm The gene coding for fibrillin has recently been identified and is defective in the Marfan syndrome.

scholarly journals A Case Report of Marfan Syndrome with Literature Review

2015 ◽  
Vol 4 (4) ◽  
pp. 269
Author(s):  
Hemanth Kumar Kalla ◽  
Swarna Kumari ◽  
CH Rama rao ◽  
MKR Parthasarathy ◽  
S Surya prakash Reddy ◽  
...  
Keyword(s):  
Case Report ◽  
Connective Tissue ◽  
Marfan Syndrome ◽  
Clinical Signs ◽  
Connective Tissue Disorder ◽  
Multiple Organ ◽  
Review Of The Literature ◽  
Organ Systems ◽  
Loin Pain ◽  
Routine Physical Examination

Marfan syndrome(MFS) is a connective tissue disorder that affects multiple organ systems. Cardiovascular, ocular, and skeletal abnormalities are cardinal features of the syndrome. Its incidence is among the highest of any heritable disorder.Most patients who have Marfan syndrome are usually diagnosed incidentally when they present for a routine physical examination for various reasons. The purpose of this paper is to provide a review of the literature, as well as describe a 22-year-old male with MFS and right hydroureteronephrosis diagnosed incidentally when he attended our hospital for complaints of fever and right loin pain. This case report emphasizes importance of “Revised Ghent criteria” for the diagnosis of MFS and highlights various clinical signs of MFS<strong>.</strong>

scholarly journals Dural ectasia in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up study

2019 ◽  
Vol 19 (8) ◽  
pp. 1412-1421 ◽  
Author(s):  
Tordis Böker ◽  
Thy Thy Vanem ◽  
Are Hugo Pripp ◽  
Svend Rand-Hendriksen ◽  
Benedicte Paus ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Marfan Syndrome ◽  
Connective Tissue Disorders ◽  
Dural Ectasia ◽  
Follow Up Study

A Case Report of Marfan Syndrome with Literature Review

2015 ◽  
Vol 4 (4) ◽  
pp. 269
Author(s):  
Hemanth Kumar Kalla ◽  
Swarna Kumari ◽  
CH Rama rao ◽  
MKR Parthasarathy ◽  
S Surya prakash Reddy ◽  
...  
Keyword(s):  
Case Report ◽  
Connective Tissue ◽  
Marfan Syndrome ◽  
Clinical Signs ◽  
Connective Tissue Disorder ◽  
Multiple Organ ◽  
Review Of The Literature ◽  
Organ Systems ◽  
Loin Pain ◽  
Routine Physical Examination

Marfan syndrome(MFS) is a connective tissue disorder that affects multiple organ systems. Cardiovascular, ocular, and skeletal abnormalities are cardinal features of the syndrome. Its incidence is among the highest of any heritable disorder.Most patients who have Marfan syndrome are usually diagnosed incidentally when they present for a routine physical examination for various reasons. The purpose of this paper is to provide a review of the literature, as well as describe a 22-year-old male with MFS and right hydroureteronephrosis diagnosed incidentally when he attended our hospital for complaints of fever and right loin pain. This case report emphasizes importance of “Revised Ghent criteria” for the diagnosis of MFS and highlights various clinical signs of MFS<strong>.</strong>

Leptomeningeal cysts in congenital ectopia lentis

1973 ◽  
Vol 38 (5) ◽  
pp. 650-654 ◽  
Author(s):  
Bryce Weir
Keyword(s):  
Connective Tissue ◽  
Marfan Syndrome ◽  
Genetic Disorder ◽  
Ectopia Lentis ◽  
Content Type ◽  
Extradural Cyst ◽  
Common Pathogenesis ◽  
Intrathoracic Meningocele ◽  
Subarachnoid Cyst ◽  
Fine Print

✓ A case of ectopia lentis (Marfan syndrome) with a cerebral subarachnoid cyst, a spinal extradural cyst connected to a lateral intrathoracic meningocele, and perineural cysts is presented. The association of these leptomeningeal cysts in this genetic disorder of connective tissue suggests a common pathogenesis.

scholarly journals Marfan Syndrome: A Case Report

2012 ◽  
Vol 2012 ◽  
pp. 1-4
Author(s):  
Rajendran Ganesh ◽  
Rajendran Vijayakumar ◽  
Haridoss Selvakumar
Keyword(s):  
Stainless Steel ◽  
Case Report ◽  
Connective Tissue ◽  
Blood Vessel ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
The Body ◽  
Tissue Protein ◽  
Fibrillin 1 ◽  
Systemic Disorder

Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Children affected by the Marfan syndrome carry a mutation in one of their two copies of the gene that encodes the connective tissue protein fibrillin-1. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body. A case report of Marfan syndrome has been reported with oral features. The dental problems of the child were treated under general anesthesia and a one-month review showed intact stainless steel crowns' restorations and no signs of secondary caries.

scholarly journals Gastrointestinal Manifestations of Marfan Syndrome

2017 ◽  
Author(s):  
Nashiz Inayet ◽  
Jamal Hayat ◽  
Andrew Poullis ◽  
Maite Tome ◽  
Ann Child
Keyword(s):  
Connective Tissue ◽  
Marfan Syndrome ◽  
Medical Literature ◽  
Review Article ◽  
Connective Tissue Disorders ◽  
Gastrointestinal Complications ◽  
Gastrointestinal Manifestations ◽  
Gastrointestinal Pathology ◽  
Term Management

Symptoms attributed to the gastrointestinal manifestations of multi-system disorders play an important role in the long-term management of these conditions. Gastrointestinal complications of a variety of connective tissue disorders have been studied and there is an increased interest in the incidence and prevalence of these symptoms. Descriptions of the occurrence of gastrointestinal complications in Marfan syndrome have appeared infrequently in the medical literature. In this review article we focus on both structural and functional gastrointestinal pathology that may occur in patients with Marfan syndrome.

scholarly journals ANAESTHETIC MANAGEMENT OF A CASE OF MARFAN SYNDROME POSTED FOR BENTALL OPERATION: A CASE REPORT

2020 ◽  
pp. 1-3
Author(s):  
Parasmani Parasmani ◽  
Ankita Yadav ◽  
Mukesh Kumar
Keyword(s):  
Connective Tissue ◽  
Marfan Syndrome ◽  
Heart Valves ◽  
Composite Graft ◽  
Anaesthetic Management ◽  
Connective Tissue Disorder ◽  
Aortic Dilatation ◽  
Autosomal Dominant Trait ◽  
Bentall Operation ◽  
Bentall Procedure

Marfan syndrome is a connective tissue disorder that is inherited as an autosomal dominant trait. [3] These patients have tubular long bones giving ‘Abe Lincon’[3] appearance. Cardio-vasular anomalies are responsible for early deaths in patients of Marfan syndrome. Defective connective tissue in the aorta and heart valves can lead to aortic dilatation, dissection, rupture and prolapse of cardiac valves. [3] Bentall procedure is a type of cardiac surgery involving composite graft replacement of the aortic valve, aortic root and ascending aorta, with the re-implantation of the coronary arteries into the graft.

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