First Data of Clinical Presentation of Siblings with Diagnosed Marfan Syndrome: Many but Not All

Abstract Early onset Marfan Syndrome (eoMFS) is a rare, severe form of Marfan Syndrome (MFS). The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system.

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Anterior sacral meningocele masquerading as an ovarian cyst: a rare clinical presentation associated with Marfan syndrome

Clinics and Practice ◽

10.4081/cp.2015.752 ◽

2015 ◽

Vol 5 (2) ◽

Cited By ~ 13

Author(s):

Neslin Sahin ◽

Mine Genc ◽

Esin Kasap ◽

Aynur Solak ◽

Berrin Korkut ◽

...

Keyword(s):

Marfan Syndrome ◽

Ovarian Cyst ◽

Clinical Presentation ◽

Anterior Sacral Meningocele

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Renal Artery Aneurysm: An Unusual Clinical Presentation in Marfan Syndrome

Journal of Emergency Medicine ◽

10.1016/j.jemermed.2017.01.019 ◽

2017 ◽

Vol 52 (6) ◽

pp. e261-e262

Author(s):

Lucio Dell’Atti

Keyword(s):

Renal Artery ◽

Marfan Syndrome ◽

Clinical Presentation ◽

Artery Aneurysm ◽

Renal Artery Aneurysm

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The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele

Human Molecular Genetics ◽

10.1093/hmg/ddv037 ◽

2015 ◽

Vol 24 (10) ◽

pp. 2764-2770 ◽

Cited By ~ 32

Author(s):

Mélodie Aubart ◽

Marie-Sylvie Gross ◽

Nadine Hanna ◽

Marie-Thérèse Zabot ◽

Marc Sznajder ◽

...

Keyword(s):

Marfan Syndrome ◽

Clinical Presentation ◽

Wild Type

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Jansky-Bielschowsky syndrome, a lysosomal disease: First diagnosed cash in Oman

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100123568 ◽

1992 ◽

Vol 50 (1) ◽

pp. 632-633

Author(s):

Line Buhl ◽

David Muirhead

Keyword(s):

Mental Retardation ◽

Clinical Picture ◽

Neurological Disorder ◽

Clinical Presentation ◽

Neuronal Ceroid Lipofuscinosis ◽

Infantile Form ◽

Lysosomal Disease ◽

Juvenile Form ◽

Progressive Encephalopathy ◽

Lysosomal Diseases

There are four lysosomal diseases of which the neuronal ceroid lipofuscinosis is the rarest. The clinical presentation and their characteric abnormal ultrastructure subdivide them into four types. These are known as the Infantile form (Santavuori-Haltia), Late infantile form (Jansky-Bielschowsky), Juvenile form (Batten-Spielmeyer-Voght) and the Adult form (Kuph's).An 8 year old Omani girl presented wth myclonic jerks since the age of 4 years, with progressive encephalopathy, mental retardation, ataxia and loss of vision. An ophthalmoscopy was performed followed by rectal suction biopsies (fig. 1). A previous sibling had died of an undiagnosed neurological disorder with a similar clinical picture.

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

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100124860 ◽

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.

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An Overview of Dementias

Perspectives on Swallowing and Swallowing Disorders (Dysphagia) ◽

10.1044/sasd21.3.75 ◽

2012 ◽

Vol 21 (3) ◽

pp. 75-84

Author(s):

Venkata Vijaya K. Dalai ◽

Jason E. Childress ◽

Paul E Schulz

Keyword(s):

Clinical Presentation ◽

Treatment Options ◽

Current Treatment ◽

Great Variability ◽

Health Concern ◽

Public Health Concern ◽

Life Threatening ◽

The Common ◽

Neurodegenerative Dementias ◽

Made In

Dementia is a major public health concern that afflicts an estimated 24.3 million people worldwide. Great strides are being made in order to better diagnose, prevent, and treat these disorders. Dementia is associated with multiple complications, some of which can be life-threatening, such as dysphagia. There is great variability between dementias in terms of when dysphagia and other swallowing disorders occur. In order to prepare the reader for the other articles in this publication discussing swallowing issues in depth, the authors of this article will provide a brief overview of the prevalence, risk factors, pathogenesis, clinical presentation, diagnosis, current treatment options, and implications for eating for the common forms of neurodegenerative dementias.

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