Description

Since infancy, the patient’s height, weight and head circumference have been above the 95th percentile, and X-rays have shown advanced bone age. He had two heart problems (ventricular septal defect, patent ductus arteriosus) that resolved on their own. At age 5, he was diagnosed with weak cartilage in the walls of his trachea and bronchial tubes (tracheomalacia and bronchomalacia). Currently he has a slightly prolonged QT interval, sleep apnea, and elevated liver enzymes (transaminases).

The patient also has atypical facial features, including a large birthmark on his forehead (glabellar hemangioma), widely spaced eyes (hypertelorism), a flat nasal bridge, slightly downslanting eyes (palpebral fissures), and small ears. He also has multiple small birthmarks (capillary hemangiomas) on his chest, upper arms, and neck.

Developmentally, the patient has shown learning difficulties and had mild developmental delays.