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Toddler With Elfin Face, Cardiovascular Abnormalities, Hypercalcemia, and Developmental Delays

Toddler With Elfin Face, Cardiovascular Abnormalities, Hypercalcemia, and Developmental Delays

HISTORY

Four-year-old boy born at 35 weeks’ gestation to a gravida 2, para 1, 23-year-old mother via emergency cesarean delivery because of fetal distress. Birth weight, 1670 g (3 lb 11 oz). Apgar scores, 8 and 9 at 1 minute and 5 minutes, respectively. At birth, child found to have supravalvular aortic stenosis, peripheral pulmonary stenosis, and ventricular septal defect. Gastroesophageal reflux, laryngomalacia, bilateral inguinal hernias, hypothyroidism, hypercalcemia, growth retardation, and developmental delays noted at various times during the first 4 years of life. Family history, unremarkable.

PHYSICAL EXAMINATION

Weight, 11.79 kg (25.99 lb) (1.71 kg [3.77 lb] below the 3rd percentile) and height 94.5 cm (37.2 in) (1 cm [0.39 in] below the 3rd percentile). Child had hypotonia, long philtrum, full lips, an upturned nose, micrognathia, and periorbital fullness. A harsh systolic crescendodecrescendo murmur radiating to the neck noted in the second intercostal space at the right sternal border. Both irides had a stellate pattern.

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