Adults with Williams syndrome

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.

Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population

“…Morris et al (49,65) stated that joint contractures could be accompanied by kyphoscoliosis and lordosis. Osebold et al (66) urged spinal surgeons to operate early because of the rapid progression of kyphoscoliosis.…”

“…WS remained undiagnosed in patients 9, 25, and 38 until adolescence. In the literature, there are also reports of WS diagnosis in adults (65,71,72).…”

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

“…127 MVP can progress in adults, necessitating valve replacement. 128,129 As in childhood, idiopathic hypertension is frequent and if new in onset, should prompt baseline noninvasive imaging to evaluate for a renovascular etiology. SVAS can result in elevated blood pressure readings on the right arm secondary to the Coanda effect 130 ; therefore, the blood pressure should be measured bilaterally.…”

Multisystem study of 20 older adults with Williams syndrome

“…The previously published medical and psychological series on adults with WS demonstrate a variety of problems and suggest that WS is a multisystem disorder throughout the lifecycle [Morris et al, 1990;Lopez-Rangel et al, 1992]. However, the mean age of adults in these previous cohorts is less than 29 years of age.…”