Visual Diagnosis: A Case of Stretchy Skin and Vascular Abnormalities

Presentation

A 14-month-old boy is referred to our clinic after his parents noted that he had stretchy skin and looked thinner than his siblings did at his age.

The patient was born to a 32-year-old gravida 3 para 3 woman in Saudi Arabia. The pregnancy was complicated by maternal hypertension and gestational diabetes. He was born by cesarean delivery at term gestation due to maternal hypertension. There was no premature onset of labor, bleeding, or leakage of amniotic fluid. The mother reports that he seemed fine in the newborn nursery. He had no difficulty breathing; however, he had asymptomatic bilateral inguinal hernias and a minor diaphragmatic hernia, all of which were repaired when he was 2 weeks of age without complications. At the time of his surgery, a heart murmur was found, and echocardiography revealed that he had a dilated ascending aorta. There were no vision or hearing concerns. He did not have any feeding or developmental problems. The patient’s family history reveals that the patient’s maternal grandfather and father are first cousins. The patient has 2 first cousins who had surgical correction of vascular abnormalities. A maternal grandmother had multiple valve operations as an adult. There is no history of aortic dissection or rupture.

On physical examination his height is 31.6 in (80.2 cm) (81st percentile) and weight is 22.7 lb (10.3 kg) (57th percentile). The patient’s blood pressure is 125/35 mm Hg, heart rate is 115 beats/min, and temperature is 97.9°F (36.6°C). The patient is in no apparent distress and is breathing comfortably. A normal precordial impulse is present, with normal S_{1 …}