A 2-month-old girl is brought to the emergency department with severe respiratory distress (RR 60/min, SpO2 76% on room air) and cyanosis. Physical examination reveals bilateral cleft palate, micrognathia, and poor feeding. The infant requires emergent intubation. Subsequent echocardiography demonstrates truncus arteriosus (a single arterial trunk arising from the heart with a single semilunar valve overriding a ventricular septal defect). Genetic testing and fluorescence in situ hybridization (FISH) for 22q11 microdeletion are negative. Which of the following embryologic processes is disrupted to account for both the craniofacial and cardiac findings in this patient?
- A)Failure of neural tube closure in the hindbrain region
- B)Abnormal migration and differentiation of neural crest cells in the conus cordis and pharyngeal archesGABARITO
- C)Defective endocardial cushion tissue formation at the atrioventricular canal
- D)Failure of somite segmentation in the occipital region
- E)Incomplete regression of the first pharyngeal pouch
Explicação
Truncus arteriosus results from failure of neural crest cell migration and differentiation in the conus cordis, which normally gives rise to the aorticopulmonary septum. This same population of neural crest cells (from the first and second pharyngeal arches) i... Ver explicação completa e trilha adaptativa →