ABSTRACT
This chapter reviews the medical and cognitive profiles of Williams-Beuren syndrome (WBS). It discusses some practical recommendations for medical monitoring, educational, and vocational support. The key features of the WBS facial “gestalt” among infants and children include periorbital fullness, stellate or starburst irides among blue-eyed individuals, short up-turned nose, long philtrum, macrostomia, flat facial profile, full lower cheeks and a small chin. Arteriopathy of the coronary arteries and severe biventricular outflow tract obstruction in WBS individuals may result in sudden death by causing myocardial ischemia, decreased cardiac output and/or arrhythmia. A highly characteristic constellation of oral and dental problems is present in WBS. This includes small, widely spaced teeth, malocclusions, persistent tongue thrust, and absence of one or more teeth. Gastrointestinal problems are common in both children and adults with WBS. Gastroesophageal reflux and constipation occur in almost half of the infants and many WBS infants and young children experience textured food intolerance.
