scholarly journals Marfan Syndrome with Atypical Presentation: A Case Report

2014 ◽  
Vol 4 (2) ◽  
pp. 111-114
Author(s):  
Sharmin Mahbuba ◽  
Fauzia Mohsin ◽  
Rubaiya Islam ◽  
Tahmina Begum
Keyword(s):  
Case Report ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Connective Tissue Disorder ◽  
Atypical Presentation ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Excessive Sweating ◽  
Molecular Cytogenetic ◽  
Molecular Cytogenetic Techniques

Marfan syndrome is an inherited connective tissue disorder that is transmitted as an autosomal dominant trait. These cases can be diagnosed by molecular cytogenetic techniques. A modified Ghent criteria using systemic scoring system can also identify these cases in absence of molecular cytogenetic techniques.We report a case of a 6 year 5 month old boy who presented with the complaints of excessive sweating sinceinfancy and protrusion of both eye balls which was non progressive since early childhood. On examination, some skeletal features of Marfan syndrome was found and echocardiogram showed huge dilatation of root of aorta which helped in diagnosis by scoring system.Birdem Med J 2014; 4(2): 111-114

scholarly journals Marfan syndrome: Case series from a single family

2012 ◽  
Vol 1 (2) ◽  
pp. 132-134 ◽  
Author(s):  
P Bastola
Keyword(s):  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Case Series ◽  
Connective Tissue Disorder ◽  
Single Family ◽  
Medical Sciences ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Worldwide Distribution ◽  
High Prevalence

Marfan syndrome is an inherited connective-tissue disorder transmitted as an autosomal dominant trait. It is noteworthy for its worldwide distribution, relatively high prevalence, clinical variability, and pleiotropic manifestations. We describe here cases of Marfan syndrome accidentally found from a remote area of western hilly part of Nepal in three children out of eight children of same family. These cases came to attention in an Ophthalmologic diagnosis, screening and treatment camp. With suspicion of having some ocular problem, patients were brought to the hospital and a diagnosis of Marfan syndrome was made. All the children had similar ocular problem, which was diminution of vision, subluxated lens, myopia, increased length of the eye, one of the children had large looking eye ball, of which the patient and family members were unaware of. Family history revealed early demise of the mother at the age of forty two years. DOI: http://dx.doi.org/10.3126/njms.v1i2.6614 Nepal Journal of Medical Sciences. 2012;1(2): 132-4

scholarly journals Writer's bump - a case report

2016 ◽  
Vol 05 (01) ◽  
pp. 051-053
Author(s):  
Padmasini Srinivasan ◽  
J Pranu Chakravarthy
Keyword(s):  
Case Report ◽  
Genetic Basis ◽  
Autosomal Dominant ◽  
Middle Finger ◽  
Dominant Trait ◽  
Distal Interphalangeal Joint ◽  
Lateral Aspect ◽  
Autosomal Dominant Trait ◽  
Distal Interphalangeal ◽  
Frictional Forces

AbstractA callus is a localized thickened part of skin occurring in regions of pressure like bands and feet. The following case report describes a case of callosity of right middle finger near the distal interphalangeal joint on the lateral aspect persisting from six years of age due to writing. This condition is otherwise called as a writer's bump. Callosities are acquired, superficial, circumscribed yellow white flat thickened patches of hyper keratotic material. They occur in areas of skin exposed to rubbing and pressure. In this case it is due to pencil holding. Paring of the lesion may be done by a fully trained chiropodist. Laser treatment is also given nowadays. Callosities are commonly found in bands and feet in areas exposed to frictional forces. They may have a genetic basis too. In this case it is inherited as autosomal dominant trait from the father.

scholarly journals Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series

Neurogenetics ◽  
2021 ◽  
Author(s):  
Luca Magistrelli ◽  
Roberta Croce ◽  
Fabiola De Marchi ◽  
Chiara Basagni ◽  
Miryam Carecchio ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Case Series ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Phenotypic Spectrum ◽  
Primary Familial Brain Calcification ◽  
Psychiatric Disturbances ◽  
Brain Calcification ◽  
Uncertain Significance ◽  
Six Genes

AbstractPrimary familial brain calcification (PFBC) is a neurological condition characterized by the presence of intracranial calcifications, mainly involving basal ganglia, thalamus, and dentate nuclei. So far, six genes have been linked to this condition: SLC20A2, PDGFRB, PDGFB, and XPR1 inherited as autosomal-dominant trait, while MYORG and JAM2 present a recessive pattern of inheritance. Patients mainly present with movement disorders, psychiatric disturbances, and cognitive decline or are completely asymptomatic and calcifications may represent an occasional finding. Here we present three variants in SLC20A2, two exonic and one intronic, which we found in patients with PFBC associated to three different clinical phenotypes. One variant is novel and two were already described as variants of uncertain significance. We confirm the pathogenicity of these three variants and suggest a broadening of the phenotypic spectrum associated with mutations in SLC20A2.

Complex Segregation Analysis of Thyroid Autoantibodies: Are They Inherited as an Autosomal Dominant Trait?

1993 ◽  
Vol 43 (3) ◽  
pp. 141-146 ◽  
Author(s):  
D.I.W Phillips ◽  
D.C. Shields ◽  
J.M. Dugoujon ◽  
L. Prentice ◽  
P. McGuffin ◽  
...  
Keyword(s):  
Segregation Analysis ◽  
Autosomal Dominant ◽  
Thyroid Autoantibodies ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Complex Segregation Analysis

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 Concurrent End-Stage Cardiomyopathy and Aortic Disease in Patients with Marfan Syndrome: A Case Report and Literature Review

2021 ◽  
Author(s):  
Timothy Smith ◽  
Jose Sleiman ◽  
Nikita Zadneulitca ◽  
Cedric Sheffield ◽  
Viviana Navas ◽  
...  
Keyword(s):  
Heart Failure ◽  
Case Report ◽  
Literature Review ◽  
Marfan Syndrome ◽  
Aortic Disease ◽  
Connective Tissue Disorder ◽  
Orthotopic Heart Transplantation ◽  
Bentall Procedure ◽  
Life Saving ◽  
End Stage

Abstract Background: Marfan syndrome (MFS) is a connective tissue disorder that can lead to aortic disease, arrhythmias and heart failure. Many centers are reluctant to offer orthotopic heart transplantation (OHT) for patients with MFS with concurrent aortic disease due to complexity of the surgery and perceived inferior results when compared to patients without MFS. Methods: We present a case of a patient with MFS with previous Bentall procedure who underwent successful OHT, accompanied by a literature review on OHT performed for patients with MFS. Results and Conclusions: Patients with MFS who underwent OHT had no difference in mortality compared to patients without MFS. Even though OHT is technically more challenging when combined with concurrent intervention for aortic disease, it should be considered as a life-saving operation for patients with MFS.

THE ICHTHYOSIFORM DERMATOSES

PEDIATRICS ◽  
1968 ◽  
Vol 42 (6) ◽  
pp. 990-1004
Author(s):  
Nancy B. Esterly
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Clinical Investigation ◽  
Correct Diagnosis ◽  
Associated Anomalies ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Clinical Variants ◽  
Congenital Ichthyosiform Erythroderma ◽  
Mode Of Inheritance

The Term ichthyosis describes a group of heritable disorders which are characterized by cutaneous scaling. The visible scale differentiates these disorders from xeroderma in which the skin is dry but does not visibly desquamate. Many classifications of the ichthyoses have been proposed, but most are descriptive and contribute little to an understanding of etiology and pathogenesis. Often clinical variants or patients with minor associated anomalies have been categorized separately on an empirical basis and, in some cases, several names have been used for one entity to indicate severity of involvement. The most useful classification appears to be that of Wells and Kerr,1 who segregated the various types by their pattern of inheritance and retained the nomenclature in common usage. Differences in clinical features and histologic patterns also correlate with these genetically distinguishable types. Thus, with careful attention to the distribution and type of scale, family history, and skin histology, the physician will be able to classify patients in a meaningful way. Such an approach is helpful for several reasons. The prognosis, troublesome features, and degree of handicapping differ for the various ichthyoses. Sensible genetic counseling, an important part of the management of such patients, is possible only with the correct diagnosis. Moreover, clinical investigation of affected individuals will be further confused unless the entity under study is well defined. The need for an understanding of the physiologic and biochemical defects of ichthvotic skin is underscored by the limitations of currently available therapy. The four major types of ichthyosis include: (1) ichthyosis vulgaris, transmitted as an autosomal dominant trait; (2) sexlinked ichthyosis, transmitted as an Xlinked trait; (3) bullous congenital ichthyosiform erythroderma (CIE), inherited as an autosomal dominant trait; and (4) nonbulbus congenital ichthyosiform erythroderma, autosomal recessive mode of inheritance (Table I).

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 Advances in Treatment of ATTRv Amyloidosis: State of the Art and Future Prospects

2020 ◽  
Vol 10 (12) ◽  
pp. 952
Author(s):  
Massimo Russo ◽  
Luca Gentile ◽  
Antonio Toscano ◽  
M’Hammed Aguennouz ◽  
Giuseppe Vita ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Progressive Disease ◽  
Cardiac Involvement ◽  
Autosomal Dominant ◽  
State Of The Art ◽  
Multiple Organ ◽  
Regulatory Agencies ◽  
Motor Neuropathy ◽  
Dominant Trait ◽  
Autosomal Dominant Trait

Hereditary amyloid transthyretin (ATTRv) amyloidosis with polyneuropathy is a progressive disease that is transmitted as an autosomal dominant trait and characterized by multiple organ failure, including axonal sensory-motor neuropathy, cardiac involvement, and autonomic dysfunction. Liver transplantation (LT) and combined heart–liver transplantation, introduced in the 1990s, have been the only therapies for almost two decades. In 2011, tafamidis meglumine became the first specific drug approved by regulatory agencies, since then the attention toward this disease has progressively increased and several drugs with different mechanisms of action are now available. This review describes the drugs already on the market, those that have shown interesting results although not yet approved, and those currently being tested.

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