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

Keyphrases

• Congenital Disorders of Glycosylation 100%
• Phosphomannomutase 2 Deficiency 100%
• Vascular Ring Anomaly 100%
• Phosphomannomutase 2 62%
• Congenital Heart Defects 37%
• Developmental Delay 25%
• Feeding Difficulties 12%
• Congenital Anomalies 12%
• 6-year-olds 12%
• Arrhythmia 12%
• Echocardiography 12%
• Older Individuals 12%
• Metabolic Disorders 12%
• Cardiomyopathy 12%
• Gene Sequencing 12%
• Patent Ductus Arteriosus 12%
• Collaborative Care 12%
• Pathogenic Variants 12%
• Failure to Thrive 12%
• Whole Exome 12%
• Pathogenic mutations 12%
• Early Referral 12%
• Tetralogy of Fallot 12%
• Left Subclavian Artery 12%
• Cardiac Involvement 12%
• Cardiac Malformation 12%
• Anomaly-based 12%
• Central Nervous System Anomalies 12%
• Multiple Organs 12%
• N-glycosylation 12%
• Pericardial Effusion 12%
• Right Aortic Arch 12%
• Truncus Arteriosus 12%
• Developmental Failures 12%
• Inverted Nipple 12%
• Pediatric Cardiologist 12%

Medicine and Dentistry

• Congenital Disorder of Glycosylation 100%
• Vascular Ring 100%
• Phosphomannomutase 100%
• Congenital Heart Defect 37%
• Congenital Malformation 25%
• Developmental Delay 25%
• Myocardial Disease 12%
• Echocardiography 12%
• Patient Referral 12%
• Pediatrics 12%
• Water-Electrolyte Imbalance 12%
• Cardiovascular System 12%
• Central Nervous System 12%
• Cardiac Dysrhythmia 12%
• Aortic Arch 12%
• Exome 12%
• Organ Systems 12%
• Failure to Thrive 12%
• Feeding Difficulty 12%
• Tetralogy of Fallot 12%
• Left Subclavian Artery 12%
• Gene Sequence 12%
• Patent Ductus Arteriosus 12%
• Pericardial Fluid 12%
• Glycosylation 12%

INIS

• patients 100%
• reviews 100%
• congenital diseases 100%
• rings 100%
• genes 50%
• defects 25%
• arteries 8%
• feeding 8%
• mutations 8%
• pediatrics 8%
• central nervous system 8%
• failures 8%
• organs 8%
• patents 8%
• malformations 8%
• effusion 8%