No abstract

Reports of adults with Williams syndrome (WS) have been rare. We have evaluated 13 adult WS patients and reviewed 16 case reports of WS in patients older than age 16 years. Adults in our study had progressive multi‐system medical problems. Cardiovascular complications were common (12/13) including hypertension (8), supravalvular aortic stenosis (9), aortic hypoplasia (3), pulmonic artery stenosis (4), peripheral stenoses (3), and mitral valve prolapse (2). Joint limitation (12/13) was progressive, often accompanied by kyphoscoliosis and lordosis. Recurrent urinary tract infections in 6 individuals led to radiologic studies showing urethral stenosis in 2, and bladder diverticula and vesicoureteral reflux in 3. Gastrointestinal problems included obesity (5), chronic constipation (7), diverticulosis (3), and cholelithiasis (4). Hypercalcemia was documented in 5 patients, although others had hypercalcemic symptoms (abdominal pain, polyuria, and constipation). One 45‐year‐old man had parathyroid hyperplasia. Previous reports likewise document significant morbidity. Thus, Williams syndrome in an adult appears to dictate aggressive evaluation and monitoring. Investigation of calcium metabolism should be undertaken in each adult WS patient.

Cystic fibrosis (CF) is one of the most common autosomal recessive disorders in the United States today. One in 29 Americans, greater than 10 million people of Caucasian ethnicity, is a carrier for this genetic condition. Although it has been 10 years since the discovery of the gene for CF, carrier screening is not yet a standard of practice. The ultimate goal of carrier testing is to provide individuals at risk with information and guidance that will permit them to make informed and independent decisions. It can be anticipated that perinatal nurses will be part of the process of carrier screening of CF for prenatal patients. This article describes the nature of CF, the options for testing, and the basics of the molecular testing so nurses can be instrumental in the education process when this becomes standard practice.