Open Access
Table I
Clinical features of Williams–Beuren syndrome.
| Growth disturbances | Intrauterine growth disturbances, short stature, abnormal weight gain |
|---|---|
| Cardiac | Supravalvar aortic stenosis [SVAS, 70% of patients], aortic arch or descending aorta hypoplasia, aortic stenosis, bicuspid aortic valve, mitral valve prolapse [15% of patients], mitral regurgitation, coronary artery stenosis, pulmonary artery stenosis [PAS, 45% of patients], atrial septal defect [ASD], ventricular septal defect [VSD], Tetralogy of Fallot |
| Vascular | Peripheral pulmonary artery stenosis, systemic hypertension |
| Respiratory | Pectus excavatum, obstructive sleep apnoea |
| Auditory/ENT | Sound hypersensitivity, recurrent ear infections, sensorineural hearing loss |
| Abdominal | Inguinal/epigastric hernia |
| Gastrointestinal | Chronic constipation, diverticulosis, colic, feeding difficulties, gastro esophageal reflux, intolerance to ingestion of textured food |
| Renal | Small kidneys, single kidney, pelvic kidney, nephrocalcinosis, renal insufficiency and renal artery stenosis |
| Urinary | Bladder diverticula, urethral stenosis, recurrent urinary tract infections, voiding frequency/urgency, enuresis and delayed toilet training |
| Endocrine | Early puberty, glucose intolerance or diabetes mellitus subclinical hypothyroidism, hypercalcemia |
| Neurologic | Hypotonia (infants), hypertonia (children/adults), poor balance, tremors, Chiari Type I malformation, mental retardation, relative sparing of language, poor visual-motor integration, poor visual-spatial construction |
| Behavioral/Psychiatric | Attention deficit disorder, friendly personality, strong affinity to music, anxiety, phobias, obsessive-compulsive traits |
| Ophthalmologic | Strabismus, hyperopia/myopia, poor depth perception, lacrimal stenosis, sllate pattern of iris |
| Skin/Integument | Soft skin (baby soft), premature hair greying, splaying of skin during wound healing, hypoplastic nails |
| Musculoskeletal | Joint contractures/laxity, osteopenia, osteoporosis, kyphoscoliosis, joint limitation in limbs, hallux valgus deformity, poor balance, poor coordination |
| Vocal | Harsh, brassy or hoarse voice |
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