A newborn has a loud murmur, and echocardiography shows an interrupted aortic arch. On day 3 the infant has a seizure with a serum calcium of 6.2 mg/dL. A cleft palate is also noted. The MOST LIKELY diagnosis is:
- An interrupted aortic arch (a conotruncal defect), neonatal hypocalcemic seizure from parathyroid hypoplasia, and a cleft palate together point to 22q11.2 deletion syndrome; T-cell function should also be checked because the thymus may be small.
- The 7q11.23 deletion causes Williams syndrome, which pairs supravalvular aortic stenosis with hypercalcemia, the opposite calcium problem from this infant.
- Noonan syndrome typically brings pulmonary valve stenosis or hypertrophic cardiomyopathy with short stature and a webbed neck, not hypocalcemia.
- CHARGE syndrome is recognized by coloboma, choanal atresia, and ear anomalies; heart defects occur, but neonatal hypocalcemia with an interrupted arch is the 22q11.2 pattern.
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