Description

An infant exhibited weight faltering and failure to thrive after birth. She was born full term via an uncomplicated vaginal delivery to healthy, non-consanguineous parents. The mother received prenatal care and standard screening tests were reportedly normal throughout pregnancy. There was no family history of disease. Birth weight was 6 pounds, head circumference was 36 cm and length was 51 cm. On examination, there was a significant blood pressure discrepancy of 90–95 mm Hg systolic in the upper extremities and 60 mm Hg systolic in the lower extremities. The patient was noted to have micrognathia, prune skin and down slanting palpebral fissures. Laboratory analysis was within normal limits. CT angiography with 3D reconstruction revealed tortuosity throughout the arterial tree (figure 1). There was a right-sided kink of the descending aorta …