Long-term outcomes and follow-up — Flashcards

Osteogenesis imperfecta may be confused with _____

_____ is a congenital heart disease characterized by downward displacement of tricuspid leaflets into the right ventricle

Hirschsprung disease is characterized by failure to _____ within 48 hours and chronic constipation

Congenital defects are the _____ leading cause of death in children

The infantile form of coarctation of the aorta is associated with _____ syndrome

What symptoms does ventricular septal defect typically present with at birth?_____

_____ is a congenital absence of gyri that is typically accompanied by severe mental retardation and seizures

Large ventricular septal defects may present with a harsh, blowing _____ murmur with thrill; and can lead to endocarditis, progressive aortic regurgitation, heart failure, pulmonary HTN, and Eisenmenger syndrome

Carbamoyl phosphate synthetase I deficiency presents in _____ (age group) as poorly regulated respiration and body temperature, poor feeding, developmental delay, and intellectual disability

Autosomal recessive PKD presents in infants as worsening renal failure and _____ (BP)