Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature

Medicine & Life Sciences

• Congenital disorder of glycosylation type 1A 100%
• Congenital Disorders of Glycosylation 83%
• Vascular Ring 78%
• phosphomannomutase 59%
• Congenital Heart Defects 23%
• Genes 16%
• Truncus Arteriosus 10%
• Aberrant subclavian artery 10%
• Nervous System Malformations 8%
• Failure to Thrive 8%
• Patent Ductus Arteriosus 8%
• Tetralogy of Fallot 8%
• Whole Exome Sequencing 7%
• Pericardial Effusion 7%
• Cardiologists 7%
• Glycosylation 6%
• Thoracic Aorta 6%
• Cardiomyopathies 6%
• Cardiac Arrhythmias 5%
• Echocardiography 5%
• Central Nervous System 4%
• Referral and Consultation 4%
• Pediatrics 4%
• Mutation 3%

Chemical Compounds

• Glycosylation 47%
• Disorder 46%
• Developmental 14%
• Mutation 5%
• Metabolic 4%