scholarly journals An observation of autosomal recessive hyper-IgE syndrome: a rare case report

2017 ◽  
Vol 104 (6) ◽  
pp. 676-679
Author(s):  
Tasleem Arif ◽  
Mohammad Adil ◽  
Syed Suhail Amin ◽  
Konchok Dorjay
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Hyper Ige Syndrome ◽  
Rare Case Report

scholarly journals Sarcoglycanopathy - A Rare Case Report and Literature Review

2014 ◽  
Vol 15 (1) ◽  
pp. 77-79
Author(s):  
Ekramul Mustafa ◽  
Md. Azizul Hasan Khandaker ◽  
Md. Mamunur Rashid ◽  
Swapon Kumar Ghose ◽  
Mostofa Kamal Chowdhury
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Muscular Dystrophies ◽  
Recessive Inheritance ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Rare Case Report

Sarcoglycanopathies are relatively rare progressive muscular dystrophies with autosomal recessive inheritance designated as a, b, g, or d sarcoglycanopath.; which belong to the group of limb girdle muscular dystrophies (LGMD) and are caused by mutations in any of the four sarcoglycan genes: alpha (LGMD 2D), beta (LGMD 2E), gamma (LGMD 2C) and delta (LGMD 2F). The phenotype resembles dystrophinopathies due to proximal muscle weakness and calf hypertrophy. Reports from Bangladesh are scarce. We report a rare case of primary sarcoglycanopathy (SGP) which emphasizes the evolving concept of “dystrophinopathy to sarco-glycanopathy” and describe literature pertaining to this rare entity.DOI: http://dx.doi.org/10.3329/jom.v15i1.19880 J Medicine 2014; 15: 77-79

scholarly journals Surgical Correction of Cardiac Defects with Ellis Van Crevald Syndrome – A Rare Case Report

2021 ◽  
Vol 24 (1) ◽  
pp. E009-E013
Author(s):  
DIR Choudhury ◽  
Saikat DasGupta ◽  
Mauin Uddin ◽  
Siddhartha Shankar Howlader ◽  
PK Chanda ◽  
...  
Keyword(s):  
Case Report ◽  
Mitral Valve ◽  
Mitral Regurgitation ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Septal Defect ◽  
Surgical Repair ◽  
Autosomal Recessive Disorder ◽  
Cardiac Defects ◽  
Rare Case Report

Ellis-Van Creveld (EVC) syndrome is an autosomal recessive disorder. Around 150 cases are described in published literature and in Bangladesh, it is even rare.  The patient usually comes with short stature, dental deformity, and cardiac deformity. Here, we present the case of a patient with ostium primum atrial septal defect (ASD) with moderate mitral regurgitation who underwent surgical repair of ASD and mitral valve replacement.

scholarly journals Meckel Gruber Syndrome: a rare case report

2017 ◽  
Vol 5 (1) ◽  
pp. 262
Author(s):  
Manish Verma ◽  
Shruti Sharma ◽  
Kiran Suthar ◽  
Beena Thada
Keyword(s):  
Renal Failure ◽  
Case Report ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Pulmonary Hypoplasia ◽  
Autosomal Recessive Disorder ◽  
Polycystic Kidneys ◽  
Rare Autosomal Recessive Disorder ◽  
Live Births ◽  
Rare Case Report

Meckel gruber syndrome or dysencephalia splanchnocystica, is a rare autosomal recessive disorder caused by failure of mesodermal induction. Worldwide incidence of MGS is 1 per 13,500-140,000 live births. It is characterized by triad of occipital Meningoencephalocele, polycystic kidneys and post-axial polydactyly. Most fetuses affected with this syndrome die before birth due to oligohydramnios, renal failure or pulmonary hypoplasia. We report a rare case of MGS who delivered live at birth with classical features.

Primary neuroendocrine carcinoma of renal: a rare case report

2014 ◽  
Author(s):  
Tadeusz Budlewski ◽  
Dorota Szydlarska ◽  
Norbert Szalus ◽  
Jolanta Kijek ◽  
Beata Ewa Chrapko
Keyword(s):  
Case Report ◽  
Neuroendocrine Carcinoma ◽  
Rare Case ◽  
Rare Case Report

Combination of turner syndrome and congenital adrenal hyperplasia: a rare case report

2017 ◽  
Author(s):  
Ivana Sagova ◽  
Dušan Pavai ◽  
Matej Stančik ◽  
Helena Urbankova ◽  
Juliana Gregova ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Turner Syndrome ◽  
Rare Case ◽  
Adrenal Hyperplasia ◽  
Rare Case Report

Empyema due to salmonella typhi in a diabetic patient: a rare case report

2011 ◽  
Vol 3 (6) ◽  
pp. 405-406
Author(s):  
Dr. Nale Swati S Dr. Nale Swati S ◽  
◽  
Dr.Ghadage Dnyaneshwari P ◽  
Bhore Arvind V
Keyword(s):  
Case Report ◽  
Diabetic Patient ◽  
Rare Case ◽  
Salmonella Typhi ◽  
Rare Case Report
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