Apert's syndrome: A rare congenital disorder

2021 ◽  
Vol 8 (3) ◽  
pp. 208
Author(s):  
Supreet Shirolkar ◽  
Rajib Sikdar ◽  
Khooshbu Gayen ◽  
Anisha Bag ◽  
Santanu Mukhopadhyay ◽  
...  
Keyword(s):  
Congenital Disorder ◽  
Rare Congenital Disorder ◽  
Apert's Syndrome

scholarly journals VP32.16: Goldenhar syndrome: a rare congenital disorder with scarce prenatal findings: two cases in the same region

2020 ◽  
Vol 56 (S1) ◽  
pp. 192-192
Author(s):  
A. Fontoura Oliveira ◽  
A.S. Silva ◽  
P.A. Costa ◽  
M. Torrão ◽  
J. Monteiro Costa ◽  
...  
Keyword(s):  
Congenital Disorder ◽  
Goldenhar Syndrome ◽  
Rare Congenital Disorder

scholarly journals A Rare Congenital Disorder of Intrahepatic Bile Ducts

2016 ◽  
Vol 6 (1) ◽  
pp. 65-67
Author(s):  
Krishnasamy Narayanasamy ◽  
Jaiganesh Mohan ◽  
Kumagurubaran Sivanesan ◽  
Shifa Babu ◽  
Prem Kumar ◽  
...  
Keyword(s):  
Bile Ducts ◽  
Congenital Disorder ◽  
Intrahepatic Bile Ducts ◽  
Rare Congenital Disorder

scholarly journals P476 Sirenomelia (Mermaid Syndrome) – A rare congenital disorder

2019 ◽  
Author(s):  
Muhammad Imran Riazat ◽  
Jamaleddin Abujennah ◽  
Bharti Kewlani ◽  
Farhana Sharif
Keyword(s):  
Congenital Disorder ◽  
Mermaid Syndrome ◽  
Rare Congenital Disorder

scholarly journals Ebstein Anomaly With QRS Fragmentation on Electrocardiogram

2017 ◽  
Vol 5 (1) ◽  
pp. 232470961668871 ◽  
Author(s):  
Prakash Acharya ◽  
Jonathan Ross Ang ◽  
Bernard Gitler
Keyword(s):  
Right Ventricle ◽  
Tricuspid Valve ◽  
Congenital Disorder ◽  
Corrective Surgery ◽  
Ebstein Anomaly ◽  
Interatrial Communication ◽  
Rare Congenital Disorder ◽  
Qrs Fragmentation ◽  
The Right

Ebstein anomaly is a rare congenital disorder that involves the tricuspid valve and the right ventricle. It is associated with interatrial communication, which allows for paradoxical embolization causing unilateral blindness. Abnormal conduction through the atrialized right ventricle leads to QRS fragmentation on electrocardiogram. Its presence suggests a more severe abnormality and a higher risk of arrhythmia. The QRS fragmentation disappears after corrective surgery with resection of the atrialized right ventricle.

scholarly journals Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?

2011 ◽  
Vol 2011 ◽  
pp. 1-3
Author(s):  
Claudio Fozza ◽  
Fausto Poddie ◽  
Salvatore Contini ◽  
Antonio Galleu ◽  
Francesca Cottoni ◽  
...  
Keyword(s):  
T Cell ◽  
Gene Mutation ◽  
Cell Lymphoma ◽  
Skin Lesions ◽  
T Cell Lymphoma ◽  
Congenital Disorder ◽  
Gjb2 Gene ◽  
Connexin 26 ◽  
Peripheral T Cell Lymphoma ◽  
Rare Congenital Disorder

Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by skin lesions, neurosensorial hypoacusia, and keratitis, usually due to the mutation involving the connexin 26 gene. We report on a KID patient who showed the atypical mutation and developed a T-cell lymphoma so far never described in this group of patients.

scholarly journals Coronary artery fistula: A rare congenital disorder detected by multidetector computed tomography

2011 ◽  
Vol 23 (3) ◽  
pp. 90-92
Author(s):  
Hua-Ming Cheng ◽  
Kuo-Hsien Chiang ◽  
Pau-Yang Chang ◽  
Hsin-Wen Huang ◽  
Andy Shau-Bin Chou ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Coronary Artery ◽  
Multidetector Computed Tomography ◽  
Coronary Artery Fistula ◽  
Congenital Disorder ◽  
Rare Congenital Disorder

scholarly journals Prune Belly Syndrome

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Koyye Ravindranath Tagore ◽  
Asok Kumar S. Ramineni ◽  
A. R. Vijaya Lakshmi ◽  
Bhavani N.
Keyword(s):  
Congenital Anomalies ◽  
Congenital Disorder ◽  
Prune Belly Syndrome ◽  
Urinary System ◽  
Prune Belly ◽  
Rare Congenital Disorder ◽  
Severe Lung

Prune belly syndrome is a rare congenital disorder of the urinary system, characterized by a triad of abnormalities. The aetiology is not known. Many infants are either stillborn or die within the first few weeks of life from severe lung or kidney problems, or a combination of congenital anomalies.

scholarly journals Interruption of Left Pulmonary Artery with Right Sided Aortic Arch with TOF: A Complete Anomaly Combination

2012 ◽  
Vol 1 (1) ◽  
pp. 37-40
Author(s):  
Kiran Gangadhar
Keyword(s):  
Pulmonary Artery ◽  
Aortic Arch ◽  
Tetralogy Of Fallot ◽  
Clinical Features ◽  
Clinical Symptoms ◽  
Young Male ◽  
Left Pulmonary Artery ◽  
Congenital Disorder ◽  
Rare Congenital Disorder

Interruption of the pulmonary artery is a rare congenital disorder. The clinical symptoms are non-specific and radiological investigations are the key to diagnosis. We present a case of interruption of the left pulmonary artery associated with Tetralogy of Fallot in a young male. The radiological and clinical features of this condition are also reviewed. DOI: http://dx.doi.org/10.3126/njr.v1i1.6322 Nepalese Journal of Radiology Vol.1(1): 37-40

scholarly journals Phocomelia: An Extremely Rare Congenital Disorder involving the Limbs (Dysmelia)

2011 ◽  
Vol 2 (3) ◽  
pp. 118-120
Author(s):  
Sunita Pawar Shekokar ◽  
Tasneem Shah ◽  
C Chandana
Keyword(s):  
Congenital Disorder ◽  
Congenital Deformity ◽  
Genetic Inheritance ◽  
Etiological Factors ◽  
Rare Congenital Disorder

ABSTRACT Phocomelia—phoco(seal), melia(limbs)—is a rare congenital deformity in which hands or feet are attached close to the trunk, the limbs being grossly underdeveloped or absent. The babies are born with limbs that look like flippers on a seal. The two main etiological factors of phocomelia are genetic inheritance and use of the drug thalidomide. Here, we present a case of phocomelia in second gravida without exposure to thalidomide.

scholarly journals Correlation of messenger RNA levels with protein defects in specific granule deficiency

Blood ◽  
1992 ◽  
Vol 80 (8) ◽  
pp. 2088-2091 ◽  
Author(s):  
JJ Johnston ◽  
LA Boxer ◽  
N Berliner
Keyword(s):  
Bone Marrow ◽  
Inflammatory Response ◽  
Messenger Rna ◽  
Transcriptional Control ◽  
Congenital Disorder ◽  
Protein Levels ◽  
Rare Congenital Disorder ◽  
Specific Granule ◽  
Low Levels ◽  
Rna Levels

Abstract Neutrophil specific granule deficiency (SGD) is a rare congenital disorder of unknown cause associated with an impaired inflammatory response and an absence of neutrophil secondary granules. Reduced levels of several neutrophil proteins have led to the suggestion that the defect may lie at the level of transcription, a hypothesis that is supported by abnormally low levels of lactoferrin message in the bone marrow of two SGD patients. We have examined the level of seven granule protein RNAs in one SGD patient and have compared them with reported protein levels. We have found the RNA levels for all of these genes to be reduced in proportion to the decreased levels of their respective proteins. These data further support the hypothesis that the reduced protein levels reflect a defect in transcriptional control.

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