scholarly journals PETER’S TYPE II ANOMALY ASSOCIATED WITH CONGENITAL HEART DEFECT: RARE CASE REPORT

2015 ◽  
Vol 2 (10) ◽  
pp. 1565-1568
Author(s):  
Darshan Kumar U. Kansara ◽  
Sunil G. Biradar
Keyword(s):  
Case Report ◽  
Congenital Heart Defect ◽  
Rare Case ◽  
Congenital Heart ◽  
Type Ii ◽  
Heart Defect ◽  
Rare Case Report

scholarly journals Deletion of a single-copy DAAM1 gene in congenital heart defect: a case report

2012 ◽  
Vol 13 (1) ◽  
Author(s):  
Bihui Bao ◽  
Liang Zhang ◽  
Hua Hu ◽  
Shuxin Yin ◽  
Zhiqing Liang
Keyword(s):  
Case Report ◽  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Single Copy ◽  
Heart Defect

scholarly journals CRIGGLER - NAJAR SYNDROME TYPE II IN PREGNANCY: A RARE CASE REPORT

2015 ◽  
Vol 4 (68) ◽  
pp. 11921-11923
Author(s):  
Richa Suresh Sankhe ◽  
Ganesh A Shinde ◽  
Jeena Pavithran
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Syndrome Type ◽  
Type Ii ◽  
Rare Case Report ◽  
In Pregnancy

scholarly journals COMBINED SEVERE AORTIC AND PULMONARY VALVULAR STENOSIS IN A CHILD AND ITS MANAGEMENT: A CASE REPORT

2022 ◽  
Vol 54 (4) ◽  
pp. 377-379
Author(s):  
Usman Rashid ◽  
Rashid Nawaz ◽  
Zile Fatima ◽  
Shaifa Ashraf
Keyword(s):  
Case Report ◽  
Local Anesthesia ◽  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
Case Reports ◽  
Semilunar Valves ◽  
Rare Combination ◽  
Heart Defect ◽  
Valvular Stenosis

Combined congenital aortic and pulmonary valvular stenosis is a rare congenital heart defect. Prevalence of severe combined valvular stenosis of aortic and pulmonary valve accounts about 0.01% and also has association with many syndromes.  This combination presents unusual diagnostic as well as management problems. Apart from a few case reports, there is little in the literature on the combined stenosis of both semilunar valves and its management. We present this rare combination in a 9 year old boy which was promptly managed with the balloon valvoplasty without any complications in the same setting under local anesthesia with sedation.

scholarly journals Late diagnosis of leukocyte adhesion deficiency type II and Bombay blood type in a child: a rare case report

2019 ◽  
Vol 44 (2) ◽  
pp. 206-209
Author(s):  
Yöntem Yaman ◽  
Sultan Aydin Köker ◽  
Fahri Yüce Ayhan ◽  
Ferah Genel ◽  
Can Acıpayam ◽  
...  
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Leukocyte Adhesion ◽  
Late Diagnosis ◽  
Blood Type ◽  
Type Ii ◽  
Leukocyte Adhesion Deficiency ◽  
Rare Case Report ◽  
Deficiency Type

scholarly journals Mucopolysachharidosis-II: A Rare Case Report

2020 ◽  
Vol 18 (1) ◽  
pp. 80-82
Author(s):  
Kalgi Baxi ◽  
Ashish Jagati ◽  
Pooja Agarwal
Keyword(s):  
Case Report ◽  
Lysosomal Enzymes ◽  
Rare Case ◽  
Metabolic Disorders ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mild Mental Retardation ◽  
Mucopolysaccharidosis Type Ii ◽  
Rare Case Report ◽  
Radiological Changes

Mucopolysaccharidosis belongs to a group of metabolic disorders caused by absence or defective activity of lysosomal enzymes. Mucopolysaccharides are major components of intercellular connective tissue and defect in their metabolism leads to an accumulation of incompletely degraded mucopolysaccharides in the lysosomes which affect various body systems through enzymatic activity. We present a case of mucopolysaccharidosis type II with hallmark cutaneous features, mild mental retardation associated with radiological changes.

scholarly journals 516 A Very Rare Case Report of Hermansky-Pudlak Syndrome Type ii

2012 ◽  
Vol 97 (Suppl 2) ◽  
pp. A150-A150
Author(s):  
G. Karasu ◽  
M. Inalhan ◽  
F. Yildiz ◽  
O. Temel ◽  
O. Arslan ◽  
...  
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Syndrome Type ◽  
Type Ii ◽  
Rare Case Report ◽  
Hermansky Pudlak Syndrome
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